ETO, Yoshikatsu: search on Z-Library

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1

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

Kawazoe, Tomoya, Yamamoto, Toshiyuki, Narita, Aya, Ohno, Kousaku, Adachi, Kaori, Nanba, Eiji, Noguchi, Atsuko, Takahashi, Tsutomu, Maekawa, Masamitsu, Eto, Yoshikatsu, Ogawa, Masafumi, Murata, Miho, T

Journal:

Year:

2018

Language:

english

File:

PDF, 1.76 MB

english, 2018

2

Frequency of de novo mutations in Japanese patients with Fabry disease

Kobayashi, Masahisa, Ohashi, Toya, Iizuka, Sayoko, Kaneshiro, Eiko, Higuchi, Takashi, Eto, Yoshikatsu, Ida, Hiroyuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 388 KB

english, 2014

3

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Akyol, Mehmet Umut, Alden, Tord D., Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I., Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I., Jester, Andrea, Jones, S

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 841 KB

english, 2019

4

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

Nakamura, Kimitoshi, Kawashima, Satoshi, Tozawa, Hirotaka, Yamaoka, Mariko, Yamamoto, Tatsuyoshi, Tanaka, Noboru, Yamamoto, Ryuji, Okuyama, Torayuki, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 850 KB

2020

5

Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

Seiichi Tsujino, Naomi Kanazawa, Tohya Ohashi, Yoshikatsu Eto, Toyokazu Saito, Jun-Ichi Kira, Takeshi Yamada

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 875 KB

english, 2000

6

Combination of lysosphingomyelin, 7-ketocholesterol and bile acid W for diagnosis of Japanese patients with Niemann Pick disease type C by MS/MS

Wu, Chen, Iwamoto, Takeo, Yanagisawa, Hiroko, Akiyama, Keiko, Miyajima, Takashi, Igarashi, Junko, Hossain, Mohammad A., Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 77 KB

english, 2018

7

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Akyol, Mehmet Umut, Alden, Tord D., Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I., Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I., Jester, Andrea, Jones, S

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 841 KB

2019

8

Quick screening and diagnosis of organic acidemia by NMR urinalysis

Shuichi Yamaguchi, Naoya Koda, Yoshikatsu Eto, Kikumaro Aoki

Journal:

The Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 243 KB

english, 1985

9

A case of isolated retrograde amnesia following brain concussion

Satoshi Teramoto, Mayuki Uchiyama, Norimichi Higurashi, Yasuyuki Wada, Masakatsu Kubo, Yoshikatsu Eto

Journal:

Pediatrics International

Year:

2005

Language:

english

File:

PDF, 456 KB

english, 2005

10

Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria)

Maekawa, Kihei, Eto, Yoshikatsu, Shimizu, Hirofumi

Journal:

Brain and Development

Year:

1990

Language:

english

File:

PDF, 353 KB

english, 1990

11

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Akyol, Mehmet Umut, Alden, Tord D., Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I., Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I., Jester, Andrea, Jones, S

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 818 KB

english, 2019

12

Long-term follow-up study of West syndrome: differences of outcome among symptomatic etiologies

Shin-Ichiro Hamano, Manabu Tanaka, Mika Mochizuki, Nobuyoshi Sugiyama, Yoshikatsu Eto

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 103 KB

english, 2003

13

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease

Okada, Jun, Hossain, Mohammad Arif, Wu, Chen, Miyajima, Takashi, Yanagisawa, Hiroko, Akiyama, Keiko, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 808 KB

english, 2018

14

Differences in origin of the 1448C mutation in patients with Gaucher disease

KYOKO IWASAWA, HIROYUKI IDA, YOSHIKATSU ETO

Journal:

Pediatrics International

Year:

1997

Language:

english

File:

PDF, 268 KB

english, 1997

15

Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy

Takashi Tsuda, Yoriyasu Hasegawa, Yoshikatsu Eto

Journal:

Brain and Development

Year:

1996

Language:

english

File:

PDF, 380 KB

english, 1996

16

Prenatal Diagnosis for Inborn Errors of Metabolism in Japan

Teruo Kitagawa, Momoko Saito, Masataka Arima, Yoshikatsu Eto, Tadao Orii, Tomokazu Kusunoki, Yoshiyuki Suzuki, Keiya Tada, Seishiro Tarui, Momoji Yabuuchi

Journal:

Pediatrics International

Year:

1983

Language:

english

File:

PDF, 73 KB

english, 1983

17

Hurler syndrome with severe complication in post-bone marrow transplantation course: Life threatening interstitial pneumonitis and hypertension

TOYA OHASHI, TAKAHIRO TAHARA, KOUJI FUJISAWA, YASUTAKA HOSHI, FUMIYUKI ITO, NAOKI SUZUKI, YOSHIKATSU ETO, KIHEI MAEKAWA

Journal:

Pediatrics International

Year:

1995

Language:

english

File:

PDF, 284 KB

english, 1995

18

Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report

Kuranobu, Naomi, Murakami, Jun, Okamoto, Ken, Nishimura, Rei, Murayama, Kei, Takamura, Ayumi, Umeda, Toshiko, Eto, Yoshikatsu, Kanzaki, Susumu

Journal:

Hepatology Research

Year:

2016

Language:

english

File:

PDF, 487 KB

english, 2016

19

Screening for Mutations in the GH-1 Gene by Dideoxy Fingerprinting (ddF)

MIYATA, ICHIRO, ETO, YOSHIKATSU, KAMIJO, TAKASHI, OGAWA, MASAMICHI, FUTRAKUL, AREE, PHILLIPS III, JOHN A.

Journal:

Endocrine Journal

Year:

1999

Language:

english

File:

PDF, 775 KB

english, 1999

20

Novel Treatment for Neuronopathic Lysosomal Storage Diseases-Cell Therapy / Gene Therapy

Eto, Yoshikatsu, Ohashi, Toya

Journal:

Current Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 85 KB

english, 2002

21

Molecular characteristics in Japanese patients with lipidosis: Novel mutations in metachromatic leukodystrophy and Gaucher disease

Yoshikatsu Eto, Hiroshi Kawame, Yoriyasu Hasegawa, Toya Ohashi, Hiroyuki Ida, Toshiharu Tokoro

Journal:

Molecular and Cellular Biochemistry

Year:

1993

Language:

english

File:

PDF, 452 KB

english, 1993

22

A newly recognized missense mutation in theGLUT2gene in a patient with Fanconi-Bickel syndrome

Masahiko Tsuda, Emiko Kitasawa, Hiroyuki Ida, Yoshikatsu Eto, Misao Owada

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

23

Enhanced insulin secretion from engineered 3T3-L1 preadipocytes by induction of cellular differentiation

Kei Fujimoto, Takashi Sasaki, Masami Nemoto, Nozomu Nakai, Kyoko Sakai, Koichiro Yamasaki, Yoshito Hiki, Toya Ohashi, Yoshikatsu Eto, Naoko Tajima

Journal:

Molecular and Cellular Biochemistry

Year:

2005

Language:

english

File:

PDF, 284 KB

english, 2005

24

Regional Cerebral Blood Flow and Developmental Outcome in Cryptogenic West Syndrome

Shin-Ichiro Hamano, Satoshi Yoshinari, Norimichi Higurashi, Manabu Tanaka, Motoyuki Minamitani, Yoshikatsu Eto

Journal:

Year:

2007

Language:

english

File:

PDF, 80 KB

english, 2007

25

Clinical and Molecular Analysis of Japanese Patients with Neuronal Ceroid Lipofuscinosis

Kimihiko Oishi, Hiroyuki Ida, Kenji Kurosawa, Yoshikatsu Eto

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 57 KB

english, 1999

26

Generation and application of iPS cells for lysosomal disorders

Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 366 KB

english, 2014

27

Biochemical and morphological studies of dorsal root ganglion and its cultured cells from twitcher mouse (murine globoid cell leukodystrophy)

Ida, Hiroyuki, Eto, Yoshikatsu

Journal:

Brain and Development

Year:

1990

Language:

english

File:

PDF, 1.21 MB

english, 1990

28

Prenatal Diagnosis of Metachromatic Leukodystrophy

Eto, Yoshikatsu

Journal:

Archives of Neurology

Year:

1982

Language:

english

File:

PDF, 4.67 MB

english, 1982

29

Various Sulfatase Activities in Leukocytes and Cultured Skin Fibroblasts from Heterozygotes for the Multiple Sulfatase Deficiency (Mukosulfatidosis)

Eto, Yoshikatsu, Tahara, Takahiro, Tokoro, Toshiharu, Maekawa, Kihei

Journal:

Pediatric Research

Year:

1983

File:

PDF, 288 KB

1983

30

Common functional variant LIPA T16P affects HDL composition among patients with heterozygous familial hypercholesterolemia

Nohara, Atushi, Kawashiri, Masa-Aki, Eto, Yoshikatsu, Fujisaki, Miwa, Tada, Hayato, Yoshida, Mie, Mori, Mika, Nakanishi, Chiaki, Yagi, Kunimasa, Inazu, Akihiro, Yamagishi, Masakazu, Mabuchi, Hiroshi

Journal:

Atherosclerosis

Year:

2017

Language:

english

File:

PDF, 590 KB

english, 2017

31

Widespread and highly persistent gene transfer to the CNS by retrovirus vector in utero: implication for gene therapy to Krabbe disease

Jin-Song Shen, Xing-Li Meng, Takashi Yokoo, Ken Sakurai, Kazuhiko Watabe, Toya Ohashi, Yoshikatsu Eto

Journal:

The Journal of Gene Medicine

Year:

2005

Language:

english

File:

PDF, 578 KB

english, 2005

32

Therapeutic efficacy and adverse effects of adrenocorticotropic hormone therapy in west syndrome: Differences in dosage of adrenocorticotropic hormone, onset of age, and cause

Shin-ichiro Hamano, Shintaro Yamashita, Manabu Tanaka, Satoshi Yoshinari, Motoyuki Minamitani, Yoshikatsu Eto

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

33

Regional specificity of localized cortical lesions in West syndrome

Shin-Ichiro Hamano, Manabu Tanaka, Sakiko Kawasaki, Takahiro Nara, Hideki Horita, Yoshikatsu Eto, Saburo Kohno

Journal:

Pediatric Neurology

Year:

2000

Language:

english

File:

PDF, 928 KB

english, 2000

34

Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis.

ETO, YOSHIKATSU, IDA, HIROYUKI, UMEZAWA, FUSAYO, OHASHI, TOYA, GOMIBUCHI, ICHIZO, MAEKAWA, KIHEI

Journal:

The Tohoku Journal of Experimental Medicine

Year:

1987

Language:

english

File:

PDF, 505 KB

english, 1987

35

Minimum requirement of donor cells to reduce the glycolipid storage following bone marrow transplantation in a murine model of Fabry disease

Takayuki Yokoi, Hiroshi Kobayashi, Yohta Shimada, Yoshikatsu Eto, Nobuyuki Ishige, Teruo Kitagawa, Makoto Otsu, Hiromitsu Nakauchi, Hiroyuki Ida, Toya Ohashi

Journal:

The Journal of Gene Medicine

Year:

2011

Language:

english

File:

PDF, 229 KB

english, 2011

36

Intravenous lidocaine for status epilepticus during childhood

Shin-ichiro Hamano, Nobuyoshi Sugiyama, Shintaro Yamashita, Manabu Tanaka, Mika Hayakawa, Motoyuki Minamitani, Satoshi Yoshinari, Yoshikatsu Eto

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 63 KB

english, 2006

37

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

Hiroshi Kawame, Yoriyasu Hasegawa, Yoshikatsu Eto, Kihei Maekawa

Journal:

Year:

1992

Language:

english

File:

PDF, 440 KB

english, 1992

38

Sequential analysis of cadherin expression in a 4-year-old girl with intracranial ependymoma

Kentaro Yokoi, Masaharu Akiyama, Takaaki Yanagisawa, Junko Takahashi-Fujigasaki, Yuichi Yokokawa, Yoko Mikami-Terao, Kohei Fukuoka, Kohji Fujisawa, Hiromichi Nakazaki, Shizuo Oi, Yoshikatsu Eto, Hisas

Journal:

Child's Nervous System

Year:

2007

Language:

english

File:

PDF, 3.55 MB

english, 2007

39

Adenovirus Vector-Mediated Gene Transfer Using Degradable Starch Microspheres for Hepatocellular Carcinoma in Rats

Hiroaki Shiba, Tomoyoshi Okamoto, Yasuro Futagawa, Takeyuki Misawa, Katsuhiko Yanaga, Toya Ohashi, Yoshikatsu Eto

Journal:

Journal of Surgical Research

Year:

2006

Language:

english

File:

PDF, 188 KB

english, 2006

40

The Fabry genotype-phenotype database: an international expert consortium

Desnick, Robert J., Doheny, Dana O., Germain, Dominique P., Eto, Yoshikatsu, Weidemann, Frank, Sakuraba, Hitoshi, Chen, Rong, Bishop, David F.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 55 KB

english, 2014

41

Recent Therapeutics for Fabry Disease

Eto, Yoshikatsu

Journal:

Nihon Naika Gakkai Zasshi

Year:

2009

File:

PDF, 760 KB

2009

42

Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient

Sato, Yohei, Kobayashi, Hiroshi, Higuchi, Takashi, Shimada, Yohta, Era, Takumi, Kimura, Shigemi, Eto, Yoshikatsu, Ida, Hiroyuki, Ohashi, Toya

Journal:

Molecular Therapy — Methods & Clinical Development

Year:

2015

Language:

english

File:

PDF, 4.16 MB

english, 2015

43

Neuronal ceroid lipofuscinosis (NCL) types 1 and 2: Enzyme characteristics of PPT1 and TPP1, and their high risk and newborn screenings

Itagaki, Rina, Endo, Masahiro, Yanagisawa, Hiroko, Hossain, Mohammad Arif, Akiyama, Keiko, Miyajima, Takashi, Wu, Chen, Iwamoto, Takeo, Igarashi, Junko, Shintaku, Haruo, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 130 KB

english, 2019

44

Molecular screening of Japanese patients with gaucher disease: Phenotypic variability in the same genotypes

Hiroshi Kawame, Kihei Maekawa, Yoshikatsu Eto

Journal:

Year:

1993

Language:

english

File:

PDF, 557 KB

english, 1993

45

A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis

Kunihiko Yoshimura, Yoshihiro Wakazono, Sayoko Iizuka, Nasa Morokawa, Hiroko Tada, Yoshikatsu Eto

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 115 KB

english, 1999

46

Disseminated Varicella–Zoster virus infection in a girl with T-lineage acute lymphoblastic leukemia

Masaharu Akiyama, Naoaki Kobayashi, Kohji Fujisawa, Yoshikatsu Eto

Journal:

Pediatric Blood & Cancer

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

47

Cholesterol ester metabolism in the brain: Properties and subcellular distribution of cholesterol-esterifying enzymes and cholesterol ester hydrolases in adult rat brain

Eto Yoshikatsu, Suzuki Kunihiko

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1971

Language:

english

File:

PDF, 1.63 MB

english, 1971

48

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

Masaharu Akiyama, Osamu Yamada, Naotoshi Kanda, Shinobu Akita, Takeshi Kawano, Tsuneya Ohno, Hideaki Mizoguchi, Yoshikatsu Eto, Kenneth C Anderson, Hisashi Yamada

Journal:

Year:

2002

Language:

english

File:

PDF, 424 KB

english, 2002

49

“Multiple Sulfatase Deficient Disorder”: A Review of Clinical, Pathological, Biochemical and Pathogenic Findings

Yoshikatsu Eto, Yurie Kureha, Yuki Tada, Toshiharu Tokoro, Kihei Maekawa

Journal:

Pediatrics International

Year:

1983

Language:

english

File:

PDF, 369 KB

english, 1983

50

Mutations in the Arylsulfatase A Gene of Japanese Patients with Metachromatic Leukodystrophy

HASEGAWA, YORIYASU, KAWAME, HIROSHI, ETO, YOSHIKATSU

Journal:

DNA and Cell Biology

Year:

1993

Language:

english

File:

PDF, 3.04 MB

english, 1993

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