2021

333. Ryo Saito, ,1,2 Takashi Miyajia,1,3 Takeo Iwamoto,1,2 Chen Wu,1,3 Ken Suzuki,1 Mohammad Arif Hossain,1,2 Miyo Munakata,4 Takumi Era5 and Yoshikatsu Eto.　A Neuropathological Cell Model Derived from Niemann−Pick type C Patient- specific iPS cells Shows Disruption of the p62/SQSTM1−KEAP1−NRF2 Axis And　Impaired Formation of Neuronal Networks. Molecular Genetics ＆Metabolism Report 28, 2021, 100784.
334. Okuyama T, Eto Y, Sakai N, Nakamura K, Yamamoto T, Yamaoka M, 　Ikeda T, So S, Tanizawa K, Sonoda H, Sato Y A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II..Mol Ther. 2021 Feb 3;29(2):671-679. doi:
335. Koto Y, Sakai N, Lee Y, Kakee N, Matsuda J, Tsuboi K, Shimozawa N, Okuyama T, Nakamura K, Narita A, Kobayashi H, Uehara R, Nakamura Y, Kato K, Eto Y.　Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.　.Mol Genet Metab. 2021Jul;133(3):277-288. doi: 10.1016/j.ymgme.2021.05.004. Epub 2021 May 12.PMID: 34090759
336. Morimoto S, Nojiri A, Fukuro E, Anan I, Kawai M, Sakurai K, Kobayashi M, Kobayashi H, Ida H, Ohashi T, Shibata T, Yoshimura M, Eto Y, Hongo K
     Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement Therapy. Front Cardiovasc Med. 2021 Jan 14;7:614129. doi: 10.3389/fcvm.2020.614129.

2020

326. Torayuki Okuyama,1 Yoshikatsu Eto, 2 Norio Sakai,3 Kimitoshi Nakamura,4 Tatsuyoshi Yamamoto,5 Mariko Yamaoka,5 Toshiaki Ikeda,5 Sairei So,5 Kazunori Tanizawa,5 Hiroyuki Sonoda,5 and Yuji Sato A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II. Mol. Therapy Vol..29, No.2 1-9, 2020
327. Wu C, Iwamoto T, Hossain MA, Akiyama K, Igarashi J, Miyajima T, Eto Y. A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS. PLoS One. 2020 Sep 8;15(9):e0238624.
328. Maekawa M, Narita A, Kato A, Sato T, Ogura J, Sato Y, Kikuchi M, Noguchi A, Higaki K, Okuyama T, Takahashi T, Eto Y, Mano N. Development of a Diagnostic Screening Strategy for Niemann-Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine. Biol Pharm Bull. 2020 Sep 1;43(9):1398-1406. doi:10.1248/bpb.b20-00400. Epub 2020 Jun 25.
329. Nojiri A, Anan I, Morimoto S, Kawai M, Sakuma T, Kobayashi M, Kobayashi H, Ida H, Ohashi T, Eto Y, Shibata T, Yoshimura M, Hongo K. Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients.J Cardiol. 2020 Jan;75(1):27-33.
330. Iwahori A, Maekawa M, Narita A, Kato A, Sato T, Ogura J, Sato Y, Kikuchi M, Noguchi A, Higaki K, Okuyama T, Takahashi T, Eto Y, Mano N Development of a diagnostic screening strategy for Niemann-Pick diseases based on simultaneous liquid chromatography/tandem mass spectrometry analyses of N-palmitoyl-O-phosphocholine-serine and sphingosylphosphorylcholine..Biol Pharm Bull. 2020 Jun 25. doi:10.1248/bpb.b20-00400.
331. against alpha-galactosidase A after 6 years of enzyme replacement therapyMol Genet Metab Rep. 2020 Jul 16;24:100623.doi: 10.1016/j.ymgmr.2020.100623. eCollection 2020 Sep.
332. Nakamura K, Kawashima S, Tozawa H, Yamaoka M, Yamamoto T, Tanaka N, Yamamoto R, Okuyama T, Eto Y. Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies.Mol Genet Metab. 2020 May 1. pii: S1096-7192(20)30109-8.

2019

317. Maekawa M, Jinnoh I, Matsumoto Y, Narita A, Mashima R, Takahashi H, Iwahori A, Saigusa D, Fujii K, Abe A, Higaki K, Yamauchi S, Ozeki Y, Shimoda K, Tomioka Y, Okuyama T, Eto Y, Ohno K, T Clayton P, Yamaguchi H, Mano
     N.Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
     Int J Mol Sci. 2019 Oct 10;20(20).
318. Maekawa M, Jinnoh I, Narita A, Iida T, Saigusa D, Iwahori A, Nittono H, Okuyama T, Eto Y, Ohno K, Clayton PT, Yamaguchi H, Mano N.
     Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C. J Lipid Res.
     J Lipid Res. 2019 Dec;60(12):2074-2081
319. Hossain MA, Wu C, Yanagisawa H, Miyajima T, Akiyama K, Eto Y.
     Future clinical and biochemical predictions of Fabry disease in females by
     　 ① methylation studies of the GLA gene. Mol Genet Metab Rep.
     　 　2019 Jul 24;20:100497.
320. Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs.
     Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
     Orphanet J Rare Dis. 2019 Jun 13;14(1):137. doi: 10.1186/s13023-019-1074-9.
321. Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs.
     Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
     Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y.
322. Maekawa M, Narita A, Jinnoh I, Iida T, Marquardt T, Mengel E, Eto Y, Clayton PT, Yamaguchi H, Mano N.
     Diagnostic performance evaluation of sulfate-cnjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.
     Clin Chim Acta. 2019 Mar 12;494:58-63.
323. Yanagisawa H, Hossain MA, Miyajima T, Nagao K, Miyashita T, Eto Y. Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.Mol Genet Metab. 2019 Apr;126(4):460-465
324. Kumagai T, Terashima H, Uchida H, Fukuda A, Kasahara M, Kosuga M, Okuyama T, Tsunoda T, Inui A, Fujisawa T, Narita A, Eto Y, Kubota M.
     A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis .Brain Dev. 2019 May;41(5):460-464
325. Okuyama T, Eto Y, Sakai N, Minami K, Yamamoto T, Sonoda H, Yamaoka M, Tachibana K, Hirato T, Sato Y.
     Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial.
     Mol Ther. 2019 Feb 6;27(2):456-464.

2018

312. Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, Noguchi A, Takahashi T, Maekawa M, Eto Y, Ogawa M, Murata M, Takahashi Y.Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. BMC Neurol. 2018 Aug 17;18(1):117
313. Hossain. MA, Miyajima T, Akiyama K, Eto Y. A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.
     J Stroke Cerebrovasc Dis. 2018 Nov;27(11):3046-3052.
314. Hongo K, Ito K, Date T, Anan I, Inoue Y, Morimoto S, Ogawa K, Kawai M, Kobayashi H, Kobayashi M, Ida H, Ohashi T, Taniguchi I, Yoshimura M, Eto Y.
     The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
     Mol Genet Metab. 2018 Jun;124(2):143-151.
315. Kobayashi H, Ariga M, Sato Y, Fujiwara M, Fukasawa N, Fukuda T, Takahashi H, Ikegami M, Kosuga M, Okuyama T, Eto Y, Ida H.
     P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years.
     JIMD Rep. 2018;41:101-107.
316. Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y. Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.
     Mol Genet Metab. 2018 May;124(1):64-70.

2017

308. Mohammad Arif Hossain, Abdulrahman Obaid, Mohammad Rifai, Hala Alem, Tarek Hazwani, Ali Al Shehri, Majid Alfadhel, Yoshikatsu Eto, and Wafaa Eyaid.　Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.Hum Genome Var. 2017; 4: 17018.　Published online 2017 May 25. doi: 10.1038
309. Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y. The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome. Mol Genet Metab. 2017 Mar;120(3):173-179. doi: 10.1016/ j.ymgme.2017.01.002. Epub 2017 Jan 7.
310. Yanagisawa H, Ishii T, Endo K, Kawakami E, Nagao K, Miyashita T, Akiyama K, Watabe K, Komatsu M, Yamamoto D, Eto Y. L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease. Sci Rep. 2017 Nov 21;7(1):15944.
311. Wu C, Iwamoto T, Igarashi J, Miyajima T, Hossain MA, Yanagisawa H, Akiyama K, Shintaku H, Eto Y. Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab Rep. 2017 Jul 11;12:115-118.

2016

303. Higuchi T, Kobayashi M, Ogata J, Kaneshiro E, Shimada Y, Kobayashi H, Eto Y, Maeda S, Ohtake A, Ida H, Ohashi T. Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions. JIMD Rep. 2016;30:63-72. Epub 2016 Jun 3.
304. Kono Y1, Wakabayashi T2, Kobayashi M3, Ohashi T2, Eto Y4, Ida H2, Iguchi Y5.Characteristics of Cerebral Microbleeds in Patients with Fabry Disease. J Stroke Cerebrovasc Dis. 2016 Jun;25(6):1320-5. doi:10.1016/j.jstrokecerebrovasdis.2016.02.019. Epub 2016 Mar 14.
305. Kuranobu N, Murakami J, Okamoto K, Nishimura R, Murayama K, Takamura A, Umeda T, Eto Y, Kanzaki S. Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report. Hepatol Res. 2016 Mar;46(5):477-82. doi: 10.1111/hepr.12574. Epub 2015 Sep 18.
306. Saito O, Kusano E, Akimoto T, Asano Y, Kitagawa T, Suzuki K, Ishige N, Akiba T, Saito A, Ishimura E, Hattori M, Hishida A, Guili C, Maruyama H, Kobayashi M, Ohashi T, Matsuda I, Eto Y. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol. 2016 Apr;20(2):284-93. doi: 10.1007/s10157-015-1146-7. Epub 2015 Jul 22.
307. Shimada Y, Wakabayashi T, Akiyama K, Hoshina H, Higuchi T, Kobayashi H, Eto Y, Ida H, Ohashi T.A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice. Mol Genet Metab. 2016 Feb;117(2):140-3. doi: 10.1016/ j.ymgme. 2015.05.009. Epub 2015 May 21.

2015

295. Umeda T., Hashimoto S., Takamura A., Fujisaki M., Eto Y. Identification of a novel GLA MUTATION (F69l) in a Japanese Patient with late onset Fabry disease. Human Genome Variation, 2015, 2, 15044
296. Kuranobu N, Murakami J, Okamoto K, Nishimura R, Murayama K, Takamura A, Umeda T, Eto Y, Kanzaki S.Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report. Hepatol Res. 2015 Aug 18.
297. Sato Y, Kobayashi H, Higuchi T, Shimada Y, Era T, Kimura S, Eto Y, Ida H,Ohashi T.Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stemcells from late-onset Pompe disease patient. Mol Ther Methods Clin Dev. 2015 Jul 8;2:15023.
298. Saito O, Kusano E, Akimoto T, Asano Y, Kitagawa T, Suzuki K, Ishige N, Akiba T, Saito A, Ishimura E, Hattori M, Hishida A, Guili C, Maruyama H, Kobayashi M, Ohashi T, Matsuda I, Eto Y. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol. 2015 Jul 22.
299. Shimada Y, Wakabayashi T, Akiyama K, Hoshina H, Higuchi T, Kobayashi H, Eto Y, Ida H, Ohashi T. A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice. Mol Genet Metab. 2015 May 21. pii: S1096-7192(15)30008-1. D
300. Wakabayashi T, Shimada Y, Akiyama K, Higuchi T, Fukuda T, Kobayashi H, Eto Y, Ida H, Ohashi T. Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II. Hum Gene Ther. 2015 Jun;26(6):357-66.
301. Shimada Y, Nishimura E, Hoshina H, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T. Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease. JIMD Rep. 2015;18:33-9.
302. Higuchi T, Kobayashi M, Ogata J, Kaneshiro E, Shimada Y, Kobayashi H, Eto Y, Maeda S, Ohtake A, Ida H, Ohashi T. Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions. J Inherit Metab Dis. Reports. 2015 in press.

2014

291. Sato Y, Kobayashi H, Sato S, Shimada Y, Fukuda T, Eto Y, Ohashi T, Ida H. Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte. Mol Genet Metab. 2014 Jul;112(3):224-8.
292. Higuchi T, Kawagoe S, Otsu M, Shimada Y, Kobayashi H, Hirayama R, Eto K, Ida H, Ohashi T, Nakauchi H, Eto Y. The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs. Mol Genet Metab. 2014 May;112(1):44-8.
293. Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H. OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina. Doc Ophthalmol. 2014 Apr;128(2):137-48.
294. Akiyama K, Shimada Y, Higuchi T, Ohtsu M, Nakauchi H, Kobayashi H, Fukuda T, Ida H, Eto Y, Crawford BE, Brown JR, Ohashi T. Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice. Mol Genet Metab. 2014 Feb;111(2):139-46.

2013

287. Meng XL, Eto Y, Schiffmann R, Shen JS. HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent Manner. Mol Ther Nucleic Acids. 2013 Oct 22;2:e130.
288. Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H. Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics. 2013 Nov;14(3-4):225-32.
289. Takamura A, Sakai N, Shinpoo M, Noguchi A, Takahashi T, Matsuda S, Yamamoto M, Narita A, Ohno K, Ohashi T, Ida H, Eto Y. The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. Mol Genet Metab. 2013 Nov;110(3):401-4.
290. Kawagoe S, Higuchi T, Otaka M, Shimada Y, Kobayashi H, Ida H, Ohashi T, Okano HJ, Nakanishi M, Eto Y. Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp). Mol Genet Metab. 2013 Aug;109(4):386-9.

2012

283. Kobayashi M, Ohashi T, Fukuda T, Yanagisawa T, Inomata T, Nagaoka T, Kitagawa T, Eto Y, Ida H, Kusano E. No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene. Mol Genet Metab. 2012 Dec;107(4):711-5.
284. Nishiyama Y, Shimada Y, Yokoi T, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T. Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease. Mol Genet Metab. 2012 Nov;107(3):490-5.
285. Ohashi T, Iizuka S, Shimada Y, Higuchi T, Eto Y, Ida H, Kobayashi H. Administration of anti-CD3 antibodies modulates the immune response to an infusion of α-glucosidase in mice. Mol Ther. 2012 Oct;20(10):1924-31.
286. Higuchi T, Shimizu H, Fukuda T, Kawagoe S, Matsumoto J, Shimada Y, Kobayashi H, Ida H, Ohashi T, Morimoto H, Hirato T, Nishino K, Eto Y. Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II. Mol Genet Metab. 2012 Sep;107(1-2):122-8.

2011

279. Shimada Y, Nishida H, Nishiyama Y, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T. Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation. Biochem Biophys Res Commun. 2011 Nov 18;415(2):274-8.
280. Shimada Y, Kobayashi H, Kawagoe S, Aoki K, Kaneshiro E, Shimizu H, Eto Y, Ida H, Ohashi T. Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation. Mol Genet Metab. 2011 Dec;104(4):566-73.
281. Yokoi T, Kobayashi H, Shimada Y, Eto Y, Ishige N, Kitagawa T, Otsu M, Nakauchi H, Ida H, Ohashi T. Minimum requirement of donor cells to reduce the glycolipid storage following bone marrow transplantation in a murine model of Fabry disease. J Gene Med. 2011 May;13(5):262-8.
282. Kobayashi H, Takahashi-Fujigasaki J, Fukuda T, Sakurai K, Shimada Y, Nomura K, Ariga M, Ohashi T, Eto Y, Otomo T, Sakai N, Ida H. Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction. Mol Genet Metab. 2011 Feb;102(2):170-5.

2010

274. Eto Y. Single gene disorder: recent advances of research. Nihon Rinsho. 2010 Aug;68 Suppl 8:117-28. Review. Japanese.
275. Meng XL, Shen JS, Kawagoe S, Ohashi T, Brady RO, Eto Y. Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders. Proc Natl Acad Sci U S A. 2010 Apr 27;107(17):7886-91.
276. Iida T, Shiba H, Misawa T, Ohashi T, Eto Y, Yanaga K. Immunogene therapy against colon cancer metastasis using an adenovirus vector expressing CD40 ligand. Surgery. 2010 Nov;148(5):925-35.
277. Kobayashi H, Shimada Y, Ikegami M, Kawai T, Sakurai K, Urashima T, Ijima M, Fujiwara M, Kaneshiro E, Ohashi T, Eto Y, Ishigaki K, Osawa M, Kyosen SO, Ida H. Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Mol Genet Metab. 2010 May;100(1):14-9.
278. Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T. Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab. 2010 Jan;99(1):18-25.

2009

269. Hagiwara S, Fujimaru T, Ogino A, Takano T, Sekijima T, Kagimoto S, Eto Y. Lung abscess caused by infection of Actinobacillus actinomycetemcomitans. Pediatr Int. 2009 Oct;51(5):748-51.
270. Nagashima T, Kobayashi M, Teramoto S, Okano E, Yokoi T, Eto Y. Extremely low-birthweight neonate with prenatal Campylobacter infection. Pediatr Int. 2009 Oct;51(5):746-8.
271. Eto Y. Genome research in pediatric field. Nihon Rinsho. 2009 Jun;67(6):1146-55. Japanese.
272. Tajima A, Yokoi T, Ariga M, Ito T, Kaneshiro E, Eto Y, Ida H. Clinical and genetic study of Japanese patients with type 3 Gaucher disease. Mol Genet Metab. 2009 Aug;97(4):272-7.
273. Sakurai Y, Kojima H, Shiwa M, Ohashi T, Eto Y, Moriyama H. The hearing status in 12 female and 15 male Japanese Fabry patients. Auris Nasus Larynx. 2009 Dec;36(6):627-32.

2008

257. Hanyu K, Iida T, Shiba H, Ohashi T, Eto Y, Yanaga K. Immunogene therapy by adenovirus vector expressing CD40 ligand for metastatic liver cancer in rats. Anticancer Res. 2008 Sep-Oct;28(5A):2785-9.
258. Iida T, Shiba H, Misawa T, Ohashi T, Yanaga K. Adenovirus-mediated CD40L gene therapy induced both humoral and cellular immunity against rat model of hepatocellular carcinoma. Cancer Sci. 2008 Oct;99(10):2097-103.
259. Ikeshima-Kataoka H, Shen JS, Eto Y, Saito S, Yuasa S. Alteration of inflammatory cytokine production in the injured central nervous system of tenascin-deficient mice. In Vivo. 2008 Jul-Aug;22(4):409-13.
260. Akiyama M, Yuza Y, Yokokawa Y, Yokoi K, Ariga M, Eto Y. Differences in CTG triplet repeat expansion in leukemic cells and normal lymphocytes from a 14-year-old female with congenital myotonic dystrophy. Pediatr Blood Cancer. 2008 Oct;51(4):563-5.
261. Kitagawa T, Suzuki K, Ishige N, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Odaka H, Owada M. Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes. Pediatr Nephrol. 2008 Sep;23(9):1461-71.
262. Scarpa M, Eto Y. Lysosomal storage diseases: new challenges. Acta Paediatr Suppl. 2008 Apr;97(457):5-6.
263. Ohashi T, Iizuka S, Ida H, Eto Y. Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. Mol Genet Metab. 2008 Jul;94(3):313-8.
264. Akiyama M, Yamada O, Agawa M, Yuza Y, Yanagisawa T, Eto Y, Yamada H. Effects of prednisolone on specifically expressed genes in pediatric acute B-lymphoblastic leukemia. J Pediatr Hematol Oncol. 2008 Apr;30(4):313-6.
265. Shiba H, Misawa T, Iida T, Okamoto T, Futagawa Y, Sakurai M, Ohashi T, Eto Y, Yanaga K. Adenovirus vector-mediated gene therapy using iodized oil esters for hepatocellular carcinoma in rats. Anticancer Res. 2008 Jan-Feb;28(1A):51-3.
266. Higurashi N, Hamano S, Yoshinari S, Tanaka M, Minamitani M, Eto Y. Epileptic spasms without hypsarrhythmia showing astatic seizures in clusters. No To Hattatsu. 2008 Jan;40(1):49-53. Japanese.
267. Miyata I, Yoshikawa H, Kurokawa N, Kanno K, Hayashi Y, Eto Y. A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene. Clin Pediatr Endocrinol. 2008;17(1):17-22.
268. Miyata I, Abe-Gotyo N, Tajima A, Yoshikawa H, Teramoto S, Seo M, Kanno K, Sugiura K, Tanaka T, Eto Y. Successful intrauterine therapy for fetal goitrous hypothyroidism during late gestation. Endocr J. 2007 Dec;54(5):813-7.

2007

249. Fujimoto K, Sasaki T, Hiki Y, Nemoto M, Utsunomiya Y, Yokoo T, Nakai N, Ohashi T, Hosoya T, Eto Y, Tajima N. In vitro and Pathological Investigations of MODY5 with the R276X-HNF1beta (TCF2) Mutation.Endocr J. 2007 Dec; 54(5):757-64.
250. Nemoto M, Nishimura R, Sasaki T, Hiki Y, Miyashita Y, Nishioka M, Fujimoto K, Sakuma T, Ohashi T, Fukuda K, Eto Y, Tajima N. Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Cardiovasc Diabetol. 2007 Sep 7; 6:23.
251. Ohashi T, Sakuma M, Kitagawa T, Suzuki K, Ishige N, Eto Y. Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy.Mol Genet Metab. 2007 Nov; 92(3):271-3.
252. Miyata I, Yoshikawa H, Ikemoto M, Eto Y. Right testicular necrosis and left vanishing testis in a neonate. J Pediatr Endocrinol Metab. 2007 Mar; 20(3):449-54.
253. Miyata I, Abe-Gotyo N, Tajima A, Yoshikawa H, Teramoto S, Seo M, Kanno K, Sugiura K, Tanaka T, Eto Y. Successful Intrauterine Therapy Goitrous Hypothroidism during Late Gestation. Endocr J. 2007 Dec;54(5):813-7
254. Lei K, Ninomiya H, Suzuki M, Inoue T, Sawa M, Iida H, Eto Y, Ogawa S, Ohno K, Suzuki Y. Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase multants associates with Gaucher disease. Biochim Biophys Acta. 2007 May;1772(5):587-96.
255. Hamano S, Yoshinari S, Higurashi N, Tanaka M, Minamitani M, Eto Y.Developmental outcomes of cryptogenic West syndrome. J Pediatr Endocrinol Metab. 2007 Mar; 150(3):295-9.
256. Hamano S, Yoshinari S, Higurashi N, Tanaka M, Minamitani M, Eto Y. Regional cerebral blood flow and development

2006

231. Akiyama M, Murayama S, Yokoi K, Yanagisawa T, Hattori Y, Yamashiro Y, Eto Y, Fujisawa K. Hemoglobin Hammersmith [beta 42(CD1) Phe --> Ser] causing severe hemolytic anemia in a Japanese girl. Pediatr Blood Cancer. 2006 Nov; 47(6):839-41.
232. Sasaki K, Uno K, Ebihara A, Komuro T, Eto Y, Iida H, Takenaka K. [Unusual echo-free space behind the left atrium] J Cardiol. 2006 Jan; 47(1):47-9.
233. Hamano S, Sugiyama N, Yamashita S, Tanaka M, Hayakawa M, Minamitani M, Yoshinari S, Eto Y. Intravenous lidocaine for status epilepticus during childhood. Dev Med Child Neurol. 2006 Mar; 48(3):220-2.
234. Mikami-Terao Y, Akiyama M, Yanagisawa T, Takahashi-Fujigasaki J, Yokoi K, Fukuoka K, Sakuma M, Miyata I, Fujisawa K, Oi S, Eto Y. Lymphocytic hypophysitis with central diabetes insipidus and subsequent hypopituitarism masking a suprasellar germinoma in a 13-year-old girl. Childs Nerv Syst. 2006 Oct; 22(10):1338-43.
235. Hamano S, Yamashita S, Tanaka M, Yoshinari S, Minamitani M, Eto Y.Therapeutic efficacy and adverse effects of adrenocorticotropic hormone therapy in west syndrome: differences in dosage of adrenocorticotropic hormone, onset of age, and cause. J Pediatr. 2006 Apr; 148(4):485-8.
236. Suzuki H, Akiyama N, Tsuji M, Ohashi T, Saito S, Eto Y. Human Shugoshin mediates kinetochore-driven formation of kinetochore microtubules. Cell Cycle. 2006 May;5(10):1094-101. Epub 2006 May 15.
237. Higurashi N, Hamano S, Eto Y. [Secondary progressive multiple sclerosis in childhood--interferon beta 1b treatment] No To Hattatsu. 2006 May; 38(3):209-13.
238. Shiba H, Okamoto T, Futagawa Y, Misawa T, Yanaga K, Ohashi T, Eto Y. Adenovirus vector-mediated gene transfer using degradable starch microspheres for hepatocellular carcinoma in rats. J Surg Res. 2006 Jun 15; 133(2):193-6.
239. Mizuno Y, Furusho T, Yoshida A, Nakamura H, Matsuura T, Eto Y. Serum vitamin A concentrations in asthmatic children in Japan. Pediatr Int. 2006 Jun; 48(3):261-4.
240. Yokoi K, Akiyama M, Yanagisawa T, Takahashi-Fujigasaki J, Yokokawa Y, Mikami-Terao Y, Fukuoka K, Fujisawa K, Nakazaki H, Oi S, Eto Y, Yamada H. Sequential analysis of cadherin expression in a 4-year-old girl with intracranial ependymoma. Childs Nerv Syst. 2006 Aug 25
241. Miyata I, Vallette-Kasic S, Saveanu A, Takeuchi M, Yoshikawa H, Tajima A, Tojo K, Reynaud R, Gueydan M, Enjalbert A, Tajima N, Eto Y, Brue T. Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2006 Dec; 91(12):4981-7.
242. Yoshikawa H, Miyata I, Eto Y. Serum glucagon-like peptide-2 levels in neonates: comparison between extremely low-birthweight infants and normal-term infants. Pediatr Int. 2006 Oct; 48(5):464-9.
243. Kato Y, Takano Y, Kobayashi M, Ito F, Hara T, Yanagisawa T, Hoshi Y, Eto Y. Retinochoroidal infarction during the treatment of acute lymphoblastic leukemia. Pediatr Int. 2006 Oct; 48(5):495-7.
244. Eto Y. [Lisosomal disease with endocrine abnormality] Nippon Rinsho. 2006 Sep 28; Suppl 3:579-81.
245. Shibata A, Katsunuma T, Tomikawa M, Tan A, Yuki K, Akashi K, Eto Y.Increased leukotriene E4 in the exhaled breath condensate of children with mild asthma. Chest. 2006 Dec; 130(6):1718-22.
246. Yokoi K, Akiyama M, Yanagisawa T, Takahashi-Fujigasaki J, Yokokawa Y, Mikami-Terao Y, Fukuoka K, Fujisawa K, Nakazaki H, Oi S, Eto Y, Yamada H. Sequential analysis of cadherin expression in a 4-year-old girl with intracranial ependymoma. Childs Nerv Syst. 2007 Feb; 23(2):237-42.
247. Mizuno Y, Furusho T, Yoshida A, Nakamura H, Matsuura T, Eto Y.Serum vitamin A concentrations in asthmatic children in Japan. Pediatr Int. 2006 Jun; 48(3):261-4.
248. kiyama M, Yamada O, Yanagisawa T, Fujisawa K, Eto Y, Yamada H. Analysis of telomerase activity and RNA expression in a patient with acute promyelocytic leukemia treated with all-trans retinoic acid. Pediatr Blood Cancer. 2006 Apr; 46(4):506-11.

2005

213. Yokoi K, Akiyama M, Yanagisawa T, Yoshino M, Nakazaki H, Takahashi K, Takahashi-Fujigasaki J, Kanetsuma Y, Yamada H, Oi S, Eto Y. RNA expression analysis of a congenatiral intracranian teratoma. Pediatr Blood Cancer. 2005; 7: 516-520.
214. Shen JS, Meng XL, YokooT, Sakurai K, Wanabe K, Ohashi T, Eto Y. Widespread and highly persistent gene transfer to the CNS by retrovirus vectorin utero: implication for gene therapy to Krabbe disease. J Gene Med. 2005; 7: 540-551.
215. Fujimoto K, Sasaki T, Nemoto M, Nakai N, Sakai K, Yamasaki K, Hiki Y, Ohashi T, Eto Y, Tajima N. Enhanced insulim secretion from engineered 3T3-L1 preadipocytas by induction of cellular differentiation. Mol Cell Biochem. 2005; 268: 1-8.
216. Yokoo T, Ohashi T, Shen JS, Sakurai K, Miyazaki Y, Utsunomiya Y, Takahashi M, Terada Y, Eto Y, Kawamura T, Osumi N, Hosoya T. Human mesenchymal stem cells in rodent whole-embryo culture are reprogrammed to contribute to kidney tissuete. Proc Natl Acad Sci U.S.A. 2005; 102: 3296-3300.
217. Urashima M, Sakuma M, Teramoto S, Fuyama Y, Eto Y, Kondo K, Tanaka T. Gene expression profiles of peripheral and cord blood mononuclear cells altered by thymic stromal lymphopoietim. Pediatr Res. 2005; 57: 563-9.
218. Meng XL, Shen JS, Watabe K, Ohashi T, Eto Y. GALK transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo. Mol Genet Metab. 2005; 84: 332-343.
219. Akiyama M, Yanagisawa T, Yuza Y, Yokoi K, Ariga M, Fujisawa K, Hoshi Y, Eto Y. Successful treatment of Diamond-Blackfan anemia with tetoclopramide. Am J Hematol. 2005; 78: 295-298.
220. Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, Sakai N, Kitagawa T, Suzuki Y, Mochizuki S, Kawakami M, Hosoya T, Owada M, Sakuraba H, Saito H. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis. 2005; 28: 575-583.
221. Akiyama M, Yanagisawa T, Yuza Y, Yokoi K, Fujisawa K, Kobayashi S, Eto Y. Severe aplastic anaemia complicating Sjogren syndrome in a 2-year-old girl. Eur J Pediatr. 2005; 164: 700-702.
222. Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Mills K, Winchester B, keutzer J. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine saples using tandem mass spectrometry. Mol Genet Metab. 2005; 85: 196-202.
223. Kurihara M, Nakae Y, Kohagizawa T, Eto Y. Brain perfusion single photon emissioncomputed tomography in children after acte encephalopathy. No To Hattatsu. 2005; 37: 289-292.
224. Teramoto S, Uchiyama M, Higurashi N, Wada Y, Kubo M, Eto Y. A case of isolated retrogradde amnesia following brain concussion. Pediatr Int. 2005; 47: 462-472.
225. Yoshinari S, Hamano S, Ito T, Eto Y. MRI-diffusion weighted images of encephalopathy associated with human herpesvirus 6 infection. No To Hattatsu. 2005; 37: 374-379.
226. Hamano S, Sugiyama N, Tanaka M, Kikuchi K, Eto Y. Choice and administration sequence of antiepileptic agents for status epileptics and frequentseizures in children. No To Hattatsu. 2005; 37: 395-399.
227. Ichinose M, Nakayama M, Ohashi T, Utsunomiya Y, Kobayashi M, Eto Y. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol. 2005; 9: 228-232.
228. Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, Araki E, Itoh K, Matsushita K, Hara M, Kuwahara K, Nakano T, Yasumoto N, Nonoguchi H, Tomita K. Identification of Fabry｡ﾇs disease by the screening of alpha-galactosidase A activity in male and female homodialysis patients. Clin Nephrol. 2005; 64: 281-287.
229. Yuza Y, Yokoi K, Sakurai K, Ariga M, Yanagisawa T, Ohashi T, Hoshi Y, Eto Y. Allogenic bone marrow transplantation for late-infantile neuronal ceroic lipofuscinosis. Pediatr Int. 2005; 47: 681-683.
230. Akiyama M, Kobayashi N, Fujisawa K, Eto Y. Disseminated Varicella-Zoster virus infection in a girl with T-lineage acute lymphoblastic leukemia. Pediatr Blood Cancer. 2005 Aug; 45(2):191-4.

2004

204. Akiyama M, Yamada O, Hideshima T, Yanagisawa T, Yokoi K, Fujisawa K, Eto Y, Yamada H, Anderson KC. TNFalpha induces rapid activation and unclear translocation of telomerase in fuman lymphocytes. Biochem Biophys Res Commun. 2004; 316(2): 528-32.
205. Miyata I, Yoshikawa H, Eto Y. Consitutionally tall stature with morphological abnormality of the pituitary gland. Endocr J. 2004; 51:189-95.
206. Eto Y, Shen JS, Meng XL, Ohashi T. Treatment of lysosomal storage disorders: cell therapy and gone therapy. 2004; J Inherit Metab Dis. 27-411-5.
207. Hamanoue M, Yoshioka A, Ohashi T, Eto Y, Takamatsu K. NF-kappakB prevents TNF-alpha-induced apoptosis in an oligodendrc cell line. 2004; 29: 1571-6.
208. Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, Ida H, Eto Y, Ogawa S, Matsuzaki Y, Sawa M, Inoue T, Higaki K, Nanba E, Ohno K, Suzuki Y. N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta. 2004; 1689: 219-228.
209. Sakurai K, Iizuka S, Shen JS, Meng XL, Mori T, Umezawa A, Ohashi T, Eto Y. Brain transplantation of genetically modified bone marrowstromal cells corrects CNS pathology and cognitive function in MPS VII mice. Gene Ther. 2004; 11: 1475-1481.
210. Kato Y, Yano I, Ito F, Yanagisawa T, Hoshi Y, Eto Y. Home-based palliative care for children with cancer in Japan, present issues and future prospects. Pediatr Int. 2004; 46: 478-479.
211. Shen JS, Meng XL, Maeda H, Ohashit, Eto Y. Widespread gene transduction to the central nervous system by adenovirous in utero: implication for prenatal gene theraphy to brain involvement of lysosomal storage disease. J Gene Med. 2004; 6:1206-12015.
212. Hashimoto M, Fukuda T, Shimizu T, Watanabe S, Watanuki S, Eto Y, Urashima M. Influence of climate factors on emergency visits for childhood asthma attack. Pediatr Int. 2004 Feb;46(1):48-52.

2003

191. Hakuba N, Watabe K, Hyodo J, Ohashi T, Eto Y, Taniguchi M, Yang L, Tanaka J, Hata R, Gyo K. Adenovirus-mediated overexpression of a gene prevents hearing loss and progressive inner hair cell loss after transient cochlear ischemia in gerbils. Gene Ther. 2003; 10: 426-33.
192. Yoshimura K, Anzai C, Iizuka S, Eto Y, Heda GD. Molecular biological study of action mechanismof macrolide antibiotics on CFTR. Jpn J Antibiot. 2003; 56 Suppl A: 117-20.
193. Anzai C, Morokawa N, Okada H, Kamidono S, Eto Y. CFTR gene mutations in Japanese individualswith congenital bilateral absence of the vas deferens. J Cyst Fibros. 2003; 2:14-8.
194. Sugama S, Ariga M, Hoashi E, Eto Y. Brainstem cranial-nerve lesions inan infant with hypoxic cerebral injury. Pediatr Neurol. 2003; 29:256-9.
195. Kimura T, Ohashi T, Kikuchi T, Kiyota H, Eto Y, Ohishi Y. Antitumor immunity against bladder cancer induced by ex vivo expression of CD40 ligand gene using retrovirus vector. Cancer Gene Ther. 2003; 10:833-9.
196. Meng XL, Shen JS, Ohashi T, Maeda H, Kim SU, Eto Y. Brain transplantation of genetically engine-neered human neural stem cells globally corrects brain lesions in the mucopolysaccharidosis type VII mouse. J Neurosci Res. 2003; 74:266-77.
197. Hamano S,Tanaka M, Mochizuki M, Sugiyama N, Eto Y. Long-term follow-up study of West syndrome:Differences of outcome among symptomatic etiologies. J Pediatr. 2003; 143:231-5.
198. Hamano S, Tanaka M, Mochizuki M, Sugiyama N, Eto Y. Midazolam treatment for status epilepticus of children. No to Hattatsu. 2003; 35:304-9.
199. Kobayashi H, Fujisawa K, SaitoY, KamijoM, Oshima S, Kubo M, Eto Y, Monma C, Kitamura M. A botulism case of a 12-year-old girl caused by intestinal colonization of Clostridium botulinum type Ab. Jpn J Infect Dis. 2003; 56:73-4.
200. Sugama S, Eto Y. Brainstem lesions in children with perinatal brain injury. Pediatr Neurol. 2003; 28: 212-5.
201. Arita J, Tomikawa M, Matsushima H, Eto Y,Morikawa T. Rhythmic fast activity on EEG in a patient with Mollaret｡ﾇs meningitis. No to Hattatsu. 2003; 35:239-42.
202. Hakuba N, Watabe K, Hyodo J, Ohashi T, Eto Y, Taniguchi M, Yang L, Tanaka J, Hata R, Gyo K. Adenovirus-mediated overexpression of a gene prevents hearing loss and progressive inner hair cell loss after transient cochlear ischemia in gerbils. Gene Ther. 2003; 10: 426-33.
203. Sakamoto T, Kawazoe Y, Shen JS, Takeda Y, Arakawa Y, Ogawa J, Oyanagi K, Ohashi T, Watanabe K, Inoue K, Eto Y, Watabe K. Adenoviral Gene Transfer of GDNF, BDNF and TGFｦﾂ2, but not CNTF, cardiotrophin-1 or IGF1, protects injured adult motoneurons after facial nerve avulsion. J Neurosci Res. 2003 ; 72:54-64.

2002

185. Akiyama M, Yamada O, Kanda N, Akita S, Kawano T, Ohno T, Mizoguchi H, Eto Y, Anderson KC, Yamada H.Telomerase overexpression in K562 leukemia cells protects against apoptosis by serum deprivation and double-stranded DNA break inducing agents, but not against DNA synthesis inhibitors. Cancer Lett. 2002; 178: 187-97.
186. Eto Y, Ohashi T. Novel treatment for neuronopathic lysosomal storage diseases--cell therapy/gene therapy. Curr Mol Med. 2002; 2: 83-9.
187. Akiyama M, Wada Y, Ando K, Miyata I, Usui N, Tanaka H, Inoue K, Eto Y. 11-year-old boy with sarcoidosis and generalized brawny induration of muscle. Pediatr Int. 2002 ; 44: 93-7.
188. Shen JS, Meng XL, Ohashi T, Eto Y. Adenovirus-mediated prenatal gene transfer to murine central nervous system. Gene Ther. 2002; 9: 819-23.
189. Shen JS, Watabe K, Meng XL, Ida H, Ohashi T, Eto Y. Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). J Neurosci Res. 2002; 68: 588-94.
190. Uehara R, Suzuki H, Kurokawa N, Urashima T, Fujiwara M, Matoba M, Eto Y. Novel nonsense mutation of the BMPR-II gene in a Japanese patient with familial primary pulmonary hypertension. Pediatr Int. 2002; 44: 433-5.

2001

172. Eto Y. [ Gaucher disease] Nippon Rinsho. 2001 Mar; 59 Suppl 3:317-21.
173. Ida H, Rennert OM, Kobayashi M, Eto Y. Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease. Eur J Pediatr. 2001; 160: 21-5.
174. Akiyama M, Kawame H, Ohashi H, Tohma T, Ohta H, Shishikura A, Miyata I, Usui N, Eto Y. Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation. Am J Med Genet. 2001; 99: 111-4.
175. Yokoo T, Ohashi T, Utsunomiya Y, Shen JS, Hisada Y, Eto Y, Kawamura T, Hosoya T. Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses renal injury in mouse Goodpasture syndrome. Blood. 2001; 98: 57-64.
176. Watabe K, Sakamoto T, Ohashi T, Kawazoe Y, Oyanagi K, Takeshima T, Inoue K, Eto Y, Kim SU. Adenoviral gene transfer of glial cell line-derived neurotrophic factor to injured adult motoneurons. Hum Cell. 2001; 14: 7-15.
177. Watabe K, Ida H, Uehara K, Oyanagi K, Sakamoto T, Tanaka J, Garver WS, Miyawaki S, Ohno K, Eto Y. Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm). J Peripher Nerv Syst. 2001; 6: 85-94.
178. Sugama S, Kimura A, Chen W, Kubota S, Seyama Y, Taira N, Eto Y. Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27). J Inherit Metab Dis. 2001; 24: 379-92.
179. Shen JS, Watabe K, Ohashi T, Eto Y. Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements. Gene Ther. 2001; 8: 1081-7.
180. Yokoo T, Ohashi T, Utsunomiya Y, Shiba H, Shen JS, Hisada Y, Eto Y, Kawamura T, Hosoya T. Inflamed glomeruli-specific gene activation that uses recombinant adenovirus with the Cre/loxP system. J Am Soc Nephrol. 2001; 12: 2330-7.
181. Shiba H, Okamoto T, Futagawa Y, Ohashi T, Eto Y. Efficientand cancer-selective gene transfer to hepatocellular carcinoma in a rat using adenovirus vector with iodized oil esters. Cancer Gene Ther. 2001; 8: 713-8.
182. Sugama S, Soeda A, Eto Y. Magnetic resonance imaging in three children with kernicterus. Pediatr Neurol. 2001; 25: 328-31.
183. Kuwashima N, Kageyama S, Eto Y, Urashima M. CD40 ligand immunotherapy in cancer: an efficient approach. Leuk Lymphoma. 2001; 42: 1367-77.
184. Kimura T, Suzuki H, Ohashi T, Asano K, Kiyota H, Eto Y. The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas. Cancer. 2001; 92: 2555-61.

2000

153. Urashima M, Suzuki H, Yuza Y, Akiyama M, Ohno N, Eto Y. An oral CD40 ligand gene therapy against lymphoma using attenuated Salmonella typhimurium. Blood. 2000; 95: 1258-63.
154. Mochizuki H, Joh K, Matsuyama N, Imadachi A, Usui N, Eto Y. Focal segmental glomerulosclerosis in a patient with Prader-Willi syndrome. Clin Nephrol. 2000; 53: 212-5.
155. Morokawa N, Iizuka S, Tanano A, Katsube A, Muraji T, Eto Y, Yoshimura K. Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10. Hum Mutat. 2000; 15: 485.
156. Watabe K, Ohashi T, Sakamoto T, Kawazoe Y, Takeshima T, Oyanagi K, Inoue K, Eto Y, Kim SU. Rescue of lesioned adult rat spinal motoneurons by adenoviral gene transfer of glial cell line-derived neurotrophic factor. J Neurosci Res. 2000; 60: 511-9.
157. Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T.Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Ann Neurol. 2000; 47: 625-31.
158. Futagawa Y, Okamoto T, Ohashi T, Eto Y. Efficiency of adenovirus-mediated gene transfer into hepatocytes by liver asanguineous perfusion method. Res Exp Med (Berl). 2000; 199: 263-74.
159. Ohashi T, Yokoo T, Iizuka S, Kobayashi H, Sly WS, Eto Y. Reduction of lysosomal storage in murine mucopolysaccharidosis type VII by transplantation of normal and genetically modified macrophages. Blood. 2000; 95: 3631-3.
160. Sugama S, Bingham PM, Wang PP, Moss EM, Kobayashi H, Eto Y. Morphometry of the head of the caudate nucleus in patients with velocardiofacial syndrome (del 22q11.2). Acta Paediatr. 2000; 89: 546-9.
161. Eto Y, Ohashi T. Gene therapy/cell therapy for lysosomal storage disease. J Inherit Metab Dis. 2000; 23: 293-8.
162. Sakamoto T, Watabe K, Ohashi T, Kawazoe Y, Oyanagi K, Inoue K, Eto Y. Adenoviral vector-mediated GDNF gene transfer prevents death of adult facial motoneurons. Neuroreport. 2000; 11: 1857-60.
163. Akiyama M, Yamada O, Akita S, Urashima M, Horiguchi-Yamada J, Ohno T, Mizoguchi H, Eto Y, Yamada H. Ectopic expression of c-myc fails to overcome downregulation of telomerase activity induced by herbimycin A, but ectopic hTERT expression overcomes it. Leukemia. 2000; 14: 1260-5.
164. Suzuki Y, Isogai K, Teramoto T, Tashita H, Shimozawa N, Nishimura M, Asano T, Oda M, Kamei A, Ishiguro H, Kato S, Ohashi T, Kobayashi H, Eto Y, Kondo N. Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy. J Inherit Metab Dis. 2000; 23: 453-8.
165. Hamano S, Tanaka M, Kawasaki S, Nara T, Horita H, Eto Y, Kohno S. Regional specificity of localized cortical lesions in West syndrome. Pediatr Neurol. 2000; 23: 219-24.
166. Miyata K, Shimokawa H, Kandabashi T, Higo T, Morishige K, Eto Y, Egashira K, Kaibuchi K, Takeshita A. Rho-kinase is involved in macrophage-mediated formation of coronary vascular lesions in pigs in vivo. Arterioscler Thromb Vasc Biol. 2000; 20: 2351-8.
167. Tsuda M, Kitasawa E, Ida H, Eto Y, Owada M. A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. Eur J Pediatr. 2000; 159: 867.
168. Yagi T, Jikihara I, Fukumura M, Watabe K, Ohashi T, Eto Y, Hara M, Maeda M. Rescue of ischemic brain injury by adenoviral gene transfer of glial cell line-derived neurotrophic factor after transient global ischemia in gerbils. Brain Res. 2000; 885: 273-82.
169. Eto Y, Ohno K, Tsukuno M. [Pfeiffer syndrome] Ryoikibetsu Shokogun Shirizu. 2000; (28 Pt 3):577.
170. Eto Y. [Pelizaeus-Merzbacher disease(PMD)/spastic paraplegia 2(SPG2)] Ryoikibetsu Shokogun Shirizu. 2000; (29 Pt 4):536-7.
171. Arita J, Maekawa K, Matsushima H, Eto Y, Harada T, Hano H, Morikawa T. [A patient with epilepsy, congenital alopecia and mental retardation: combination of atypical absence in waking and nocturnal partial seizure] No To Hattatsu. 2000 Jul; 32(4):312-7.

1999

141. Eto Y, Ida H. Clinical and molecular characteristics of Japanese Gaucher disease. Neurochem Res. 1999; 24: 207-11.
142. Ida H, Rennert OM, Kato S, Ueda T, Oishi K, Maekawa K, Eto Y. Severe skeletal complications in Japanese patients with type 1 Gaucher disease. J Inherit Metab Dis. 1999; 22: 63-73.
143. Miyata I, Eto Y, Kamijo T, Ogawa M, Futrakul A, Phillips JA 3rd. Screening for mutations in the GH-1 gene by dideoxy fingerprinting (ddF). Endocr J. 1999; 46 Suppl:S71-4.
144. Oishi K, Ida H, Kurosawa K, Eto Y. Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis. Mol Genet Metab. 1999; 66: 344-8.
145. Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet. 1999; 105: 120-6.
146. Ichiba T, Hoshi Y, Eto Y, Tajima N, Kuraishi Y. Characterization of GFR, a novel guanine nucleotide exchange factor for Rap1. FEBS Lett. 1999; 457: 85-9.
147. Yoshimura K, Wakazono Y, Iizuka S, Morokawa N, Tada H, Eto Y.A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis. Clin Genet. 1999; 56: 173-5.
148. Yamasaki K, Sasaki T, Nemoto M, Eto Y, Tajima N.Differentiation-inducedinsulin secretion from nonendocrine cells with engineered human proinsulin cDNA. Biochem Biophys Res Commun. 1999; 265: 361-5.
149. Yokoo T, Ohashi T, Utsunomiya Y, Kojima H, Imasawa T, Kogure T, Hisada Y, Okabe M, Eto Y, Kawamura T, Hosoya T. Prophylaxis of antibody-induced acute glomerulonephritis with genetically modified bone marrow-derived vehicle cells. Hum Gene Ther. 1999; 10: 2673-8.
150. Sugama S, Namihira T, Matsuoka R, Taira N, Eto Y, Maekawa K. Psychiatric inpatients and chromosome deletions within 22q11.2. J Neurol Neurosurg Psychiatry. 1999; 67: 803-6.
151. Tsukuno M, Suzuki H, Eto Y. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. J Craniofac Genet Dev Biol. 1999; 19: 183-8.
152. Miyata I, Eto Y, Kamijo T, Ogawa M, Futrakul A, Phillips JA 3rd. Screening for mutations in the GH-1 gene by dideoxy fingerprinting (ddF). Endocr J. 1999; 46 Suppl: S71-4.

1998

133. Ida H, Rennert OM, Ito T, Maekawa K, Eto Y. Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. Blood Cells Mol Dis. 1998; 24: 73-81.
134. Yokoo T, Utsunomiya Y, Ohashi T, Imasawa T, Kogure T, Futagawa Y, Kawamura T, Eto Y, Hosoya T. Inflamed site-specific gene delivery using bone marrow-derived CD11b+CD18+ vehicle cells in mice. Hum Gene Ther. 1998; 9: 1731-8.
135. Adachi Y, Kobayashi Y, Ida H, Yasumizu R, Okamura A, Kayatani H, Teranishi N, Inaba M, Sugihara A, Genba H, Eto Y, Ikehara S. An autopsy case of fetal Gaucher disease. Acta Paediatr Jpn. 1998; 40: 374-7.
136. Kurosawa K, Ida H, Eto Y. Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations. J Inherit Metab Dis. 1998; 21: 781-2.
137. Ohashi T, Iizuka S, Sly WS, Machiki K, Eto Y. Efficient and persistent expression of beta-glucuronidase gene in CD34+ cells from human umbilical cord blood by retroviral vector. Eur J Haematol. 1998; 61: 235-9.
138. Eto Y. [Lysosomal transport disorders: cystinosis and sialic acid storage disorders] Ryoikibetsu Shokogun Shirizu. 1998; (19 Pt 2):601-5.
139. Eto Y, Ito T, Kobayashi H. [Multiple sulfatase deficiency] Ryoikibetsu Shokogun Shirizu. 1998; (19 Pt 2):385-8.
140. Eto Y, Hasegawa Y, Kurosawa K. [Metachromatic leukodystrophy] Ryoikibetsu Shokogun Shirizu. 1998; (19 Pt 2):379-84.

1997

128. Uyama E, Uchino M, Ida H, Eto Y, Owada M. D409H/D409H genotype in Gaucher-like disease. J Med Genet. 1997; 34: 175.
129. Ohashi T, Watabe K, Uehara K, Sly WS, Vogler C, Eto Y. Adenovirus-mediated gene transfer and expression of human beta-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice. Proc Natl Acad Sci U S A. 1997; 94: 1287-92.
130. Ida H, Rennert OM, Kawame H, Maekawa K, Eto Y. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. J Inherit Metab Dis. 1997; 20: 67-73.
131. Iwasawa K, Ida H, Eto Y. Differences in origin of the 1448C mutation in patients with Gaucher disease. Acta Paediatr Jpn. 1997; 39: 451-3.
132. Sugama S, Yoshimura H, Ashimine K, Eto Y, Maekawa K. Enhanced magnetic resonance imaging of leptomeningeal angiomatosis. Pediatr Neurol. 1997; 17: 262-5.

1996

118. Ida H, Rennert OM, Maekawa K, Eto Y. Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. Hum Mutat. 1996; 7: 65-7.
119. Ohashi T, Watabe K, Sato Y, Saito I, Barranger JA, Matalon R, Eto Y. Gene therapy for metachromatic leukodystrophy. Acta Paediatr Jpn. 1996; 38: 193-201.
120. Ida H, Rennert OM, Ito T, Maekawa K, Eto Y. Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1. Acta Paediatr Jpn. 1996; 38: 233-6.
121. Ida H, Rennert OM, Kawame H, Ito T, Maekawa K, Eto Y. Mutation screening of 17 Japanese patients with neuropathic Gaucher disease. Hum Genet. 1996; 98: 167-71.
122. Sato T, Wada Y, Okazaki M, Kobayashi S, Okabe N, Eto Y, Kubo M, Maekawa K. [Study on septicaemia in infants and children in the past 20 years. Part 1. An analysis of causal organisms] Kansenshogaku Zasshi. 1996; 70: 775-83.
123. Sato T, Wada Y, Okazaki M, Kobayashi S, Okabe N, Eto Y, Kubo M, Maekawa K. [Study on septicaemia in infants and children in the past 20 years. Part 2. An analysis of factors that prescribe for the prognosis] Kansenshogaku Zasshi. 1996; 70: 784-91.
124. Tsuda T, Hasegawa Y, Eto Y. Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. Brain Dev. 1996; 18: 400-3.
125. Mochizuki H, Joh K, Kawame H, Imadachi A, Nozaki H, Ohashi T, Usui N, Eto Y, Kanetsuna Y, Aizawa S. Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol. 1996; 46: 347-52.
126. Eto Y, Ida H. [Molecular studies of Gaucher disease] Rinsho Byori. 1996 Apr; 44(4):327-34.
127. Eto Y. [Batten disease] Ryoikibetsu Shokogun Shirizu. 1996; (15):241-3.

1995

112. Yamaguchi M, Eto Y, Matsuzaki G, Ishii A, Shoji S, Takizawa H, Takaishi T, Inoue T, Nagaoka S, Ito K. [A case in which bronchorrhea was alleviated by oral erythromycin and inhalation of beclomethasone and furosemide] Nihon Kyobu Shikkan Gakkai Zasshi. 1995; 33: 192-6.
113. Ida H, Iwasawa K, Kawame H, Rennert OM, Maekawa K, Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet. 1995; 95: 717-20.
114. Ohashi T, Matalon R, Barranger JA, Eto Y. Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype. Gene Ther. 1995; 2: 363-8.
115. Ohashi T, Watabe K, Sato Y, Saito I, Barranger JA, Eto Y. Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector. Gene Ther. 1995; 2: 443-9.
116. Ohashi T, Tahara T, Fujisawa K, Hoshi Y, Ito F, Suzuki N, Eto Y, Maekawa K. Hurler syndrome with severe complication in post-bone marrow transplantation course: life threatening interstitial pneumonitis and hypertension. Acta Paediatr Jpn. 1995; 37: 697-700.
117. Eto Y, Hasegawa Y, Tsuda T. [Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)] Nippon Rinsho. 1995 Dec; 53(12):2994-3003.

1994

103. Yamamoto T, Ohashi T, Tokoro T, Maekawa K, Eto Y. Type C Niemann-Pick disease fibroblasts and their transformed cell lines are hypersensitive to HMG-CoA reductase inhibitors. J Inherit Metab Dis. 1994; 17: 718-23.
104. Tsujino S, Shanske S, Nonaka I, Eto Y, Mendell JR, Fenichel GM, DiMauro S. Three new mutations in patients with myophosphorylase deficiency (McArdle disease). Am J Hum Genet. 1994; 54: 44-52.
105. Yamamoto T, Tokoro T, Eto Y. The attenuated elevation of cytoplasmic calcium concentration following the uptake of low density lipoprotein in type C Niemann-Pick fibroblasts. Biochem Biophys Res Commun. 1994; 198: 438-44.
106. Hasegawa Y, Kawame H, Ida H, Ohashi T, Eto Y. Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing. Hum Genet. 1994; 93: 415-20.
107. Matsunaga T, Hasegawa MM, Ryuno K, Omau S, Magara T, Kobayashi M, Machida K, Wakasugi H, Eto Y, Maekawa K. [On the antimicrobial activities of oral cephems against methicillin-sensitive Staphylococcus aureus isolated from children with pediatric infection] Jpn J Antibiot. 1994; 47: 485-92.
108. Ida H, Rennert OM, Watabe K, Eto Y, Maekawa K. Pathological and biochemical studies of fetal Krabbe disease. Brain Dev. 1994; 16: 480-4.
109. Yamamoto T, Hayashi Y, Suzuki H, Tahara T, Fujisawa K, Eto Y, Yamazaki Y, Maekawa K. Early onset of cecal perforation in neonatal, recto-sigmoid type Hirschsprung's disease. Acta Paediatr Jpn. 1994; 36: 717-9.
110. Yamamoto T, Iwasawa K, Tokoro T, Eto Y, Maekawa K. [A possible same genetic defect in two Niemann-Pick disease model mice] No To Hattatsu. 1994 Jul; 26(4):318-22.
111. Eto Y. [Inborn error of lipid metabolism] Ryoikibetsu Shokogun Shirizu. 1994; (4):619-30.

1993

92. Ohashi T, Eto Y, Learish R, Barranger JA. Correction of enzyme deficiency in metachromatic leukodystrophy fibroblasts by retroviral-mediated transfer of the human arylsulphatase A gene. J Inherit Metab Dis. 1993; 16: 881-5.
93. Kawame H, Maekawa K, Eto Y. Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes. Hum Mutat. 1993; 2: 362-7.
94. Eto Y, Kawame H, Hasegawa Y, Ohashi T, Ida H, Tokoro T. Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. Mol Cell Biochem. 1993; 119: 179-84.
95. Hasegawa Y, Kawame H, Eto Y. Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. DNA Cell Biol. 1993; 12: 493-8.
96. Ida H, Rennert OM, Eto Y, Chan WY. Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive. J Biochem (Tokyo). 1993; 114: 15-20.
97. Sugama S, Okazaki M, Nakanishi Y, Ito F, Eto Y, Maekawa K. Well-developed infant with hypoxic-ischemic encephalopathy associated with EEG burst suppression and subcortical leukohypodensity on CT scan. Acta Paediatr Jpn. 1993; 35: 529-33.
98. Tsuginoi S, Shanske S, Nonaka I, Eto Y, Mendell JR, Fenichel G, Dimaur S. Three new mutation in patients with myophosphorylase deficiency (McAdrdle disease). Amer. J. Hum Genet. 1993; 54: 44-52.
99. Matsushima H, Eto Y, Maekwa K, Bogenmann E. Transfection of the prot-oncogene trk reconstitutes functional NGF signal pathway in human neuroblastoma. Neurochemical Res.1993; 18: 814.
100. Hasegawa Y, Kawame H, Eto Y. [Molecular analysis of Japanese patients with metachromatic leukodystrophy] Nippon Rinsho. 1993 Sep;51(9):2314-8.
101. Eto Y. [Signal cascade of NGF and its application in the treatment of brain injury and neural tumor] Tanpakushitsu Kakusan Koso. 1993 Aug; 38(10):1603-7.
102. Sugama S, Nakanishi Y, Okazaki M, Ito F, Eto Y, Maekawa K. [SPECT (single photon emission computed tomography) findings in 4 cases of neuronal migration disorders] No To Shinkei. 1993 Jan; 45(1):39-42.

1992

86. Sugama S, Matsunaga T, Ito F, Eto Y, Maekawa K. Transient, unilateral, isolated hypoglossal nerve palsy. Brain Dev. 1992; 14: 122-3.
87. Nozawa M, Iwamoto T, Tokoro T, Eto Y. Novel procedure for measuring psychosine derivatives by an HPLC method. J Neurochem. 1992; 59: 607-9.
88. Kawame H, Hasegawa Y, Eto Y, Maekawa K. Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Hum Genet. 1992; 90: 294-6.
89. Sugama S, Ito F, Eto Y, Maekawa K. [A case of frontal lobe epilepsy presenting with gelastic seizures] No To Hattatsu. 1992 Sep; 24(5):475-9.
90. Sugama S, Kusano K, Okazaki M, Eto Y. [The neuroendocrinological examinations in mentally retarded boy with self-injurious behavior (SIB) and the effect of naloxone, clomipramine and sulpiride on SIB] Rinsho Shinkeigaku. 1992 Aug;32(8):890-2.
91. Sugama S, Tomita K, Okazaki M, Eto Y, Ito F, Maekawa K. [A patient with epilepsy presenting developmental regression after seizures--consideration of the mechanism from the findings of CT-scan and SPECT] No To Shinkei. 1992 May; 44(5):473-6.

1991

83. Sugama S, Eto Y, Yamamoto H, Kim SU. Psychosine cytotoxicity toward rat C6 glioma cells and the protective effects of phorbol ester and dimethylsulfoxide: implications for therapy in Krabbe disease. Brain Dev. 1991; 13: 104-9.
84. Kawame H, Eto Y. A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. Am J Hum Genet. 1991; 49: 1378-80.
85. Eto Y, Kawame H, Nozawa M, Sugama S, Tokoro T. Biochemical and molecular studies of Gaucher disease. Brain dysfunction. 1991; 4: 244-51.

1990

73. Ida H, Eto Y. Biochemical and morphological studies of dorsal root ganglion and its cultured cells from twitcher mouse (murine globoid cell leukodystrophy). Brain Dev. 1990; 12: 412-6.
74. Shimizu H, Maekawa K, Eto Y. Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). Brain Dev. 1990; 12: 533-5.
75. Matsui K, Shirasawa N, Eto Y. Cytoplasmic accumulations in rat primary brain cell cultures following treatment with E-64, a thiol protease inhibitor. Dev Neurosci. 1990; 12: 133-9.
76. Ida H, Kusano K, Suzuki H, Tokoro T, Eto Y. Galactosylceramide and galactosylsphingosine loading studies in cultured skin fibroblasts in human and murine globoid cell leukodystrophy. Biochem Biophys Res Commun. 1990; 166: 1053-60.
77. Ida H, Eto Y, Maekawa K. Biochemical pathogenesis of demyelination in globoid cell leukodystrophy (Krabbe's disease): the effects of psychosine upon oligodendroglial cell culture. Acta Paediatr Jpn. 1990; 32: 20-6.
78. Toda K, Kobayashi T, Goto I, Ohno K, Eto Y, Inui K, Okada S. Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy. J Neurochem. 1990; 55: 1585-91.
79. Sugama S, Kim SU, Ida H, Eto Y. Psychosine cytotoxicity in rat neural cell cultures and protection by phorbol ester and dimethyl sulfoxide. Pediatr Res. 1990; 28: 473-6.
80. Tahara T, Eto Y, Kraus JP, Rosenberg LE. [Molecular basis of organic acidemia--propionic acidemia] Hum Cell. 1990; 3: 311-7.
81. Ida H, Kawame F, Kim SU, Eto Y. Abnormality in cultured oligodendrocytes and Schwann cells isolated from the twitcher mouse. Mol Chem Neuropathol. 1990; 13: 195-204.
82. Suzuki K, Tokoro T, Eto Y. Adnormality in cholesterol and sphingolipid metabolism in Niemann-Pick mice. Trans. Amer. Neurochem. 1990; 21: 109.

1989

69. Ohashi T, Eto Y. Molecular analysis of Japanese Gaucher disease. J Inherit Metab Dis. 1989; 12: 355-8.
70. Ida H, Eto Y, Maekawa K. Fetal GM1-gangliosidosis: morphological and biochemical studies. Brain Dev. 1989; 11: 394-8.
71. Eto Y, Ida H, Matsui K. [Application of neuronal cell culture in human degenerative brain disorders] Hum Cell. 1989; 2: 156-64.
72. Eto Y, Umezawa F. Liposomal therapy in lysosomal storage disease. Amer. J. Med. Genet.1989 ; 7: 89-92.

1988

65. Eto Y, Tsuda T, Ohhashi T, Yamaguchi S, Okuno A. Clinical and biochemical studies of Japanese neuronal ceroid-lipofuscinosis. Am J Med Genet Suppl. 1988;5:59-67.
66. Umezawa F, Eto Y. Liposome targeting to mouse brain: mannose as a recognition marker. Biochem Biophys Res Commun. 1988; 153: 1038-44.
67. Eto Y, Tada Y. Accumulation of phosphorus compounds in tissues and cultured skin fibroblasts in patients with hypophosphatasia. Biochem Biophys Res Commun. 1988; 154: 948-53.
68. Hasegawa Y, Miyamoto K, Abe Y, Nakamura T, Sugino H, Eto Y, Shibai H, Igarashi M. Induction of follicle stimulating hormone receptor by erythroid differentiation factor on rat granulosa cell. Biochem Biophys Res Commun. 1988; 156: 668-74.

1987

62. Eto Y, Gomibuchi I, Umezawa F, Tsuda T. Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency. Enzyme. 1987; 38: 273-9.
63. Eto Y, Ida H, Umezawa F, Ohashi T, Gomibuchi I, Maekawa K. Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis. Tohoku J Exp Med. 1987; 152: 333-8.
64. Yamamoto H, Koda N, Yamaguchi S, Eto Y. Revised method of NMR urinalysis for detecting inborn error of metabolism. Clin. Chemistry. 1987; 33: 714.

1986

58. Tada Y, Sekiguchi S, Ito F, Eto Y. 4-Methylumbelliferyl lipase in human and mouse brain: a possible localization in myelin. J Neurochem. 1986; 46: 140-3.
59. Ohashi T, Kanamoto Y, Yamaguchi S, Eto Y, Maekawa K. Abnormal excretion of autofluorescent lipids in urine from patients with neuronal ceroid lipofuscinosis. Tohoku J Exp Med. 1986; 148: 335-9.
60. Kanamoto Y, Karashima H, Kim SU, Eto Y. Regulation of galactocerebroside and sulfatide synthesis by hormones in chick neural cultures. Brain Res. 1986; 371: 201-3.
61. Yamaguchi S, Koda N, Ohashi T, Eto Y. Diagnosis of alkaptonuria by NMR urinalysis. Tohoku J. Exp Med. 1986; 150: 222-8.

1985

52. Matsushima H, Okuno A, Eto Y, Maekawa K. Neuropathologic study in the heterozygotes of X-linked brindled mutant mouse. Acta Neuropathol (Berl). 1985; 67: 300-8.
53. Yamaguchi S, Okuno A, Eto Y, Maekawa K. Pathochemical study of a case of hereditary cerebral degenerative disease--lipopigment accumulation and peroxidase deficiency in brain. Tohoku J Exp Med. 1985; 145: 223-9.
54. Umezawa F, Eto Y, Tokoro T, Ito F, Maekawa K. Enzyme replacement with liposomes containing beta-galactosidase from Charonia lumpas in murine globoid cell leukodystrophy (twitcher). Biochem Biophys Res Commun. 1985; 127: 663-7.
55. Yamaguchi S, Koda N, Eto Y, Aoki K. Quick screening and diagnosis of organic acidemia by NMR urinalysis. J Pediatr. 1985; 106: 620-2.
56. Tokoro T, Eto Y. Increased urinary excretion of acid mucopolysaccharides and glycopeptides in hypothyroidism following thyroid hormone therapy. Eur J Pediatr. 1985; 144: 84-6.
57. Yamaguchi S, Okuno A, Eto Y, Maekawa K. Pathochemical study of a case of hereditary cerebral degernerative disease. Lipopingment accumulation and peroxidase deficiency. Tohoku J. Exp. Med 1985; 145: 84-6.

1984

49. Eto Y, Autilio-Gambetti L, McGrath JT. CanineGM2-gangliosidosis: chemical and enzymatic features. Adv Exp Med Biol. 1984; 174:431-40.
50. Yamaguchi S, Koda N, Eto Y, Aoki K. Rapid screening of metabolic disease by proton NMR urinalysis. Lancet. 1984; 2: 284.
51. Maekawa K, Shimizu H, Eto Y, Nonaka I. McArdler disease: familial variety of muscle phosphorylase activity in two siblings. Acta Pediatr. Jap 1984; 26: 10-5.

1983

41. Eto Y, Shinoda S. Ganglioside and neytral glycolipids in human brain tumors: specificity and their significance. New Vistas Glycolipid Research (Plenum Press) 1982; 279-89.
42. Eto Y, Umezawa F, Kasai E, Ida I, Maekawa KM. Biochemical studies in mouse Krabbe's disease (Twitcher). J Inherit Metab Dis. 1983; 6: 125-6.
43. Eto Y, Tahara T, Tokoro T, Maekawa K. Various sulfatase activities in leukocytes and cultured skin fibroblasts from heterozygotes for the multiple sulfatase deficiency (mukosulfatidosis). Pediatr Res. 1983; 17: 97-100.
44. Yamaguchi S, Eto Y. Diaminobenzidine peroxidase in rat brain. Exp Neurol. 1983; 80: 1-8.
45. Yoshioka F, Eto Y, Hirata K, Rikitake N, Takechi T, Suzuki K, Ichinose E, Matsunaga S, Kato H. [Usefulness of contrast echoangiographic diagnosis of congenital tricuspid stenosis] J Cardiogr. 1983; 13: 383-94.
46. Kiguchi K, Iwamori M, Nagai Y, Eto Y, Akatsuka J. Characterization of glycosphingolipids from cells of various types of human leukemia: occurrence of two glycosphingolipids, one reacting with anti-asialo GM1 antibody and one with anti-Forssman antibody. Gann. 1983; 74: 382-90.
47. Kureha Y, Eto Y. A comparative study of brain arylsulfatases B1 and B2: the difference between the two forms in rates of uptake by multiple sulfatase deficient (MSD) disorder fibroblasts. J Biochem (Tokyo). 1983; 94: 1489-92.
48. Eto Y, Kureha Y, Tada Y, Tokoro T, Maekawa K. Multiple sulfatase deficient disorder A-review of clinical and biochemical findings. Acta Pediatr. Jap. 1983; 25: 17-21.

1982

32. Eto Y, Tahara T, Koda N, Yamaguchi S, Ito F, Okuno A. Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis by amniotic fluid and its confirmation. Arch Neurol. 1982; 39: 29-32.
33. Eto Y, Tokoro T, Kureha Y, Koda N, Tada Y, Tahara T, Maekawa K, Liebaers I, Vamos E. Neonatal multiple sulphatase deficiency disorder: biochemical characterization. J Inherit Metab Dis. 1982; 5: 235-6.
34. Eto Y, Tahara T, Koda N, Yamaguchi S. Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis with amniotic fluid by DEAE-Sepharose column chromatography and its confirmation by kidney lipid analysis. J Inherit Metab Dis. 1982; 5: 77-8.
35. Eto Y, Shinoda S. Gangliosides and neutral glycosphingolipids in human brain tumors: specificity and their significance. Adv Exp Med Biol. 1982; 152: 279-90.
36. Ichinose E, Eto Y, Takechi T, Yoshioka F, Kato H. [Two-dimensional echocardiographic study of coronary artery lesion in Kawasaki disease: a new approach to visualize the right coronary artery] J Cardiogr. 1982; 12: 111-24.
37. Eto Y, Tokoro T, Handa T, Herschkowitz NN, Rennert OM. Acid mucopolysaccharide (AMPS) abnormality in multiple sulfatase deficiency: chemical compositions of AMPS in urine and liver. Pediatr Res. 1982; 16: 395-9.
38. Eto Y, Tokoro T, Liebaers I, Vamos E. Biochemical characterization of neonatal multiple sulfatase deficient (MSD) disorder cultured skin fibroblasts. Biochem Biophys Res Commun. 1982; 106: 429-34.
39. Ida H, Umezawa F, Kasai E, Eto Y, Maekawa K. An accumulation of galactocerebroside in kidney from mouse globoid cell leukodystrophy (twitcher). Biochem Biophys Res Commun. 1982; 109: 634-8.
40. Eto Y, Shinoda S. Ganglioside and neytral glycolipids in human brain tumors: specificity and their significance. New Vistas Glycolipid Research (Plenum Press) 1982; 279-89.

1981

27. Ito F, Ota H, Aoki K, Eto Y. Urocanic acid contents in histidinaemic infant and developing rat epidermis. J Inherit Metab Dis. 1981; 4: 55-6.
28. Ohta H, Mori T, Eto Y, Maekawa K. Neonatal I-cell disease: clinical and biochemical observations. J Inherit Metab Dis. 1981; 4: 85-6.
29. Ito F, Aoki K, Eto Y. Histidinemia: biochemical parameters for diagnosis. Am J Dis Child. 1981; 135: 227-9.
30. Eto Y, et al, Tokoro T, Ito F. Chemical compositions of acid mucopolysaccharide in urine and tissues of patients with multiple sufatase deficiency. J. Inher Metab. Dis. 1981; 4: 161-2.
31. Eto Y, Impaiment of sulfatied, Acid mucoplysacharide and cholesterol sulfate degration in cultured skin fibroblasts of patients with MSD. Acta Pediatr. Jap. 1981; 23: 101-6.

1980

26. Eto Y, Numaguchi S, Tahara T, Rennert OM. Multiple sulfatase deficiency (mucosulfatidosis): impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo.Eur J Pediatr. 1980; 135: 85-9.

1979

24. Eto Y, Owada M, Kitagawa T, Kokubun Y, Rennert OM. Neurochemical abnormality in I-cell disease: chemical analysis and a possible importance of beta-galactosidase deficiency. J Neurochem. 1979; 32: 397-405.
25. Eto Y, Numaguchi S, Handa T. Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis). Eur J Pediatr. 1979; 132: 207-11.

1978

21. Kiguchi K, Eto Y, Aoki K. Effects of macromolecular compounds on human leukocyte beta-galactosidase activity. Clin Chim Acta. 1978; 85: 151-7.
22. Ohta H, Eto Y, Aoki K, Maekawa K. Glycoprotein associated with the development of nervous system. Brain and Develop. 1978; 3: 239-45.
23. Eto Y, Owada M, Kitagawa T Kokubun Y. Neurochemical abnormality in I-cell disease; chemical analysis and? possible importance of beta-galactosidase deficiency. J. Neurochem. 1978; 32: 397-405

1977

20. Toyoda S, Eto Y, Aoki K. Bile lysosomal enzymes: characteristics and pathological significance for various hepatobiliary disorders. Clin Chim Acta. 1977; 79: 291-8.

1976

18. Eto Y, Meier C, Herschkowitz NN. Chemical compositions of brain and myelin in two patients with multiple sulphatase deficiency (a variant form of metachromatic leukodystrophy). J Neurochem. 1976; 2 7:1071-6.
19. Eto Y, Enzymic studies of sulfatase deficiency to inborn error of metabolis and its variation to physical and mental development. US-Japan Cooperativ Medical Science Program.1976; 304-24.

1974

15. Eto Y, Wiesmann UN, Carson JH, Herschkowitz NN. Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy. Arch Neurol. 1974; 30: 153-6.
16. Eto Y, Rampini S, Wiesmann U, Herschkowitz NN. Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases. J Neurochem. 1974; 23: 1161-70.
17. Eto Y, Wiesmann U, Herschkowit N. Sulfogalactosylsphingosine sulfatases: characteristics of the enzyme and its deficienc I metachromatic Keukodystrophy in human cultured skin fibroblasts. J. Biol. Chem. 1974; 49: 4955-60.

1973

11. Eto Y, Suzuki K. Cholesterol ester metabolism in rat brain. A cholesterol ester hydrolase specifically localized in the myelin sheath. J Biol Chem. 1973; 248: 1986-91.
12. Suzuki K, Kamoshita S, Eto Y, Tourtellotte WW, Gonatas JO. Myelin in multiple sclerosis. Composition of myelin from normal-appearing white matter. Arch Neurol. 1973; 28: 293-7.
13. Eto Y, Suzuki K. Developmental changes of cholesterol ester hydrolases localized in myelin and microsomes of rat brain. J Neurochem. 1973; 20: 1475-7.
14. Eto Y, Suzuki K. Enzymes of cholesterol ester metabolism in the brain of mutant mice, quaking and jimpy. Exp Neurol. 1973; 41: 222-6.

1972

9. Eto Y, Suzuki K,. Cholesterol ester metabolism in rat brain; enzymes of cholesterol rster metabolism. J, Neurochem. 1972; 19: 117-20.
10. Eto Y, Suzuki K,. Cholesterol ester metabolism; in its concentratio and fatty acids compositions. J. Neurochem. 1972; 19: 109-12.

1971

4. Eto Y, Suzuki K. Brain sphingoglycolipids in Krabbe's globoid cell leucodystrophy. J Neurochem. 1971; 18: 503-11.
5. Eto Y, Suzuki K. Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin. J Neurochem. 1971; 18: 1007-16.
6. Eto Y, Suzuki K. Cholesterol ester metabolism in the brain: properties and subcellular distribution of cholesterol-esterifying enzymes and cholesterol ester hydrolases in adult rat brain. Biochim Biophys Acta. 1971; 239: 293-311.
7. Eto Y, Suzuki K, Suzuki K. Lipid composition of rat brain myelin in triethyl tin-induced edema. J Lipid Res. 1971; 12: 570-9.
8. Eto Y, Suzuki K. Globoid cell leukodystrophy(Krabbe｡ﾇs disease) : Isolation of myelin with normal glycolipid compositions. J. Lipid Res. 1971; 11: 473-5.

1970

1. Suzuki K, Suzuki Y, Eto Y. Deficiency of galactocerebroside beta-galactoside in Krabbe｡ﾇs disease. In Lipid Storage Disease (Bernsoh and Grossman eds), Academic Press, New York. 1970; pp111-36
2. Eto Y, Suzuki K, Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): isolation of myelin with normal glycolipid composition. J Lipid Res. 1970; 11: 473-9.
3. Eto Y, Kitagawa T. Wolman's disease with hypolipoproteinemia and acanthocytosis: clinical and biochemical observations. J Pediatr. 1970; 77: 862-7.