Kosuga, Motomichi: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Newborn screening for Pompe disease in Japan

Eri Oda, Toju Tanaka, Ohsuke Migita, Motomichi Kosuga, Masaru Fukushi, Toshika Okumiya, Makiko Osawa, Torayuki Okuyama

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 669 KB

english, 2011

2

Overcoming the barriers to diagnosis of Morquio A syndrome

Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew, Fietz, Michael, Fu, Antony, Jin, Dong, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, N

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.83 MB

english, 2014

3

A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS

Mashima, Ryuichi, Tanaka, Misa, Sakai, Eri, Nakajima, Hidenori, Kumagai, Tadayuki, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 332 KB

english, 2016

4

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

Kumagai, Tadayuki, Terashima, Hiroshi, Uchida, Hajime, Fukuda, Akinari, Kasahara, Mureo, Kosuga, Motomichi, Okuyama, Torayuki, Tsunoda, Tomoyuki, Inui, Ayano, Fujisawa, Tomoo, Narita, Aya, Eto, Yoshik

Journal:

Brain and Development

Year:

2019

Language:

english

File:

PDF, 882 KB

english, 2019

5

The second report on spondyloepimetaphyseal dysplasia, aggrecan type

Fukuhara, Yasuyuki, Cho, Sung Y., Miyazaki, Osamu, Hattori, Atsushi, Seo, Joo-Hyun, Mashima, Ryuichi, Kosuga, Motomichi, Fukami, Maki, Jin, Dong-Kyu, Okuyama, Torayuki, Nishimura, Gen

Journal:

Clinical Dysmorphology

Year:

2019

Language:

english

File:

PDF, 168 KB

english, 2019

6

CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses

Morimoto, Noriko, Kitamura, Masayuki, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 465 KB

english, 2014

7

Screening for late-onset Pompe disease in undiagnosed myopathies

Matsui, Misa, Inoue, Kimiko, Sakoda, Saburo, Matsumura, Tsuyoshi, Hamazaki, Takashi, Kosuga, Motomichi, Okuyama, Torayuki, Shimada, Yohta, Ohashi, Toya, Nishino, Ichizo

Journal:

Neurology and Clinical Neuroscience

Year:

2017

Language:

english

File:

PDF, 409 KB

english, 2017

8

New treatment method for mucopolysaccharidosis type VI by liver transplantation

Toyama, Sumika, Migita, Ohsuke, Fujino, Masayuki, Kunieda, Tetsuo, Kosuga, Motomichi, Fukuhara, Yasuyuki, Nagahara, Yukitoshi, Li, Xiao‐Kang, Okuyama, Torayuki

Journal:

Pediatrics International

Year:

2018

File:

PDF, 705 KB

2018

9

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

Mashima, Ryuichi, Sakai, Eri, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 673 KB

english, 2016

10

Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

Ishiwa, Sho, Sato, Mai, Morisada, Naoya, Nishi, Kentaro, Kanamori, Toru, Okutsu, Mika, Ogura, Masao, Sako, Mayumi, Kosuga, Motomichi, Kamei, Koichi, Ito, Shuichi, Nozu, Kandai, Iijima, Kazumoto, Ishik

Journal:

Pediatric Nephrology

Year:

2019

Language:

english

File:

PDF, 365 KB

english, 2019

11

Reduction of c-myc expression by an antisense approach under Cre/loxp switching induces apoptosis in human liver cancer cells

Hirotoshi Ebinuma, Hidetsugu Saito, Motomichi Kosuga, Kanji Wakabayashi, Yoshimasa Saito, Tamako Takagi, Nobuhiro Nakamoto, Torayuki Okuyama, Hiromasa Ishii

Journal:

Journal of Cellular Physiology

Year:

2001

Language:

english

File:

PDF, 268 KB

english, 2001

12

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy

Oitani, Yoshiki, Ishiyama, Akihiko, Kosuga, Motomichi, Iwasawa, Kentaro, Ogata, Ayako, Tanaka, Fumiko, Takeshita, Eri, Shimizu-Motohashi, Yuko, Komaki, Hirofumi, Nishino, Ichizo, Okuyama, Torayuki, Sa

Journal:

Brain and Development

Year:

2018

Language:

english

File:

PDF, 383 KB

english, 2018

13

The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry

Mashima, Ryuichi, Sakai, Eri, Tanaka, Misa, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 212 KB

english, 2016

14

Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis

Matsubara, Yoshiko, Miyazaki, Osamu, Kosuga, Motomichi, Okuyama, Torayuki, Nosaka, Shunsuke

Journal:

Pediatric Radiology

Year:

2017

Language:

english

File:

PDF, 1.96 MB

english, 2017

15

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

Choy, Yew Sing, Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Fietz, Michael, Fu, Antony, Inwood, Anita, Jin, Dong-Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Lin, Hsiang-Yu, Lin, Shuan-Pe

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 825 KB

english, 2015

16

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase

Kosuga, Motomichi, Mashima, Ryuichi, Hirakiyama, Asami, Fuji, Naoko, Kumagai, Tadayuki, Seo, Joo-Hyun, Nikaido, Mari, Saito, Seiji, Ohno, Kazuki, Sakuraba, Hitoshi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.39 MB

english, 2016

17

The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology

Sohn, Young Bae, Ko, Ah-Ra, Seong, Mi-ran, Lee, Soyeon, Kim, Mi Ra, Cho, Sung Yoon, Kim, Jung-Sun, Sakaguchi, Makoto, Nakazawa, Takahiro, Kosuga, Motomichi, Seo, Joo Hyun, Okuyama, Torayuki, Jin, Dong

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 2.71 MB

english, 2018

18

Glycerol homeostasis and metabolism in glycerol kinase carrier mice

Motomichi Kosuga, Nicole K. Henderson-MacLennan, Yao-Hua Zhang, Bing-Ling Huang, Katrina M. Dipple, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

19

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Wuh-Liang Hwu, Torayuki Okuyama, Wai Man But, Sylvia Estrada, Xuefan Gu, Joannie Hui, Motomichi Kosuga, Shuan-Pei Lin, Lock-Hock Ngu, Huiping Shi, Akemi Tanaka, Meow-Keong Thong, Duangrurdee Wattanasi

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 559 KB

english, 2012

20

Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study)

Yamauchi, Motoo, Nakayama, Hideaki, Shiota, Satomi, Ohshima, Yasuyoshi, Terada, Jiro, Nishijima, Tsuguo, Kosuga, Motomichi, Kitamura, Takuro, Tachibana, Naoko, Oguri, Takuya, Shirahama, Ryutaro, Aoki,

Journal:

Sleep and Breathing

Year:

2020

File:

PDF, 807 KB

2020

21

Rapid detection system of glycosaminoglycans with small amount of urine samples for high-risk screening of mucopolysaccharidoses

Mashima, Ryuichi, Kosuga, Motomichi, Sakai, Eri, Tanaka, Misa, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 53 KB

english, 2016

22

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

Fukuhara, Yasuyuki, Fuji, Naoko, Yamazaki, Narutoshi, Hirakiyama, Asami, Kamioka, Tetsuharu, Seo, Joo-Hyun, Mashima, Ryuichi, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 504 KB

english, 2018

23

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up (case report)

Furujo, Mahoko, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

24

Efficacy of hematopoietic stem cell transplantation versus enzyme replacement therapy on brain function in patients with mucopolysaccharidosis type II

Tanaka, Akemi, Hamazaki, Takashi, Okuyama, Torayuki, Suzuki, Yasuyuki, Sakai, Norio, Kosuga, Motomichi, Shinpo, Michiko, Yabe, Hiromasa, Ishige, Mika, Mugishima, Hideo, Tabuchi, Ken, Kato, Shunichi

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

25

Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings

Tajima, Go, Sakura, Nobuo, Kosuga, Motomichi, Okuyama, Torayuki, Kobayashi, Masao

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 628 KB

english, 2013

26

Overexpression of Bcl-2 protects human hepatoma cells from Fasantibody-mediated apoptosis

Masahiko Takahashi, Hidetsugu Saito, Torayuki Okuyama, Toshiyuki Miyashita, Motomichi Kosuga, Futoshi Sumisa, Masao Yamada, Hirotoshi Ebinuma, Hiromasa Ishii

Journal:

Journal of Hepatology

Year:

1999

Language:

english

File:

PDF, 1.06 MB

english, 1999

27

Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type ΙΙ

Okuyama, Torayuki, Kosuga, Motomichi, Hirakiyama, Asami, Mashima, Ryuichi

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 51 KB

english, 2016

28

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI

Mahoko Furujo, Toshihide Kubo, Motomichi Kosuga, Torayuki Okuyama

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 974 KB

english, 2011

29

A Senile Case of Late-onset Pompe's Disease

Takano, Hiroki, Ishihara, Tomohiko, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Internal Medicine

Year:

2016

Language:

english

File:

PDF, 1.42 MB

english, 2016

30

Phenotype Correction in Murine Mucopolysaccharidosis Type VII by Transplantation of Human Amniotic Epithelial Cells after Adenovirus-Mediated Gene Transfer

Kosuga, Motomichi, Takahashi, Satori, Sasaki, Kyoko, Enosawa, Shin, Li, Xiao-Kang, Okuyama, Sanae, Fujino, Masayuki, Suzuki, Seiichi, Yamada, Masao, Matsuo, Nobutake, Sakuragawa, Norio, Okuyama, Toray

Journal:

Cell Transplantation

Year:

2000

Language:

english

File:

PDF, 1.82 MB

english, 2000

31

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course

Seo, Joo-Hyun, Okuyama, Torayuki, Shapiro, Elsa, Fukuhara, Yasuyuki, Kosuga, Motomichi

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 1.11 MB

2020

32

Fas-mediated apoptosis is involved in the elimination of gene-transduced hepatocytes with E1/E3-deleted adenoviral vectors

OKUYAMA, TORAYUKI, LI, XIAO-KANG, FUNESHIMA, NAOKO, FUJINO, MASAYUKI, SASAKI, KYOKO, KITA, YUSUKE, KOSUGA, MOTOMICHI, TAKAHASHI, MASAHIKO, SAITO, HIDETSUGU, SUZUKI, SEIICHI, YAMADA, MASAO

Journal:

Journal of Gastroenterology and Hepatology

Year:

1998

Language:

english

File:

PDF, 958 KB

english, 1998

33

Effects of pre-symptomatic initiation of enzyme replacement therapy for infantile onset Pompe disease

Okuyama, Torayuki, Kosuga, Motomichi, Kumagai, Tadayuki

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 74 KB

english, 2015

34

Enzyme activities of six lysosomal diseases in a Japanese neonatal population

Mashima, Ryuichi, Sakai, Eri, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

35

Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

Ozono, Tatsuhiko, Kinoshita, Makoto, Narita, Aya, Hirakiyama, Asami, Kosuga, Motomichi, Okuyama, Torayuki, Fukada, Kei

Journal:

Journal of the Neurological Sciences

Year:

2018

Language:

english

File:

PDF, 433 KB

english, 2018

36

Encapsulation Cell Therapy for Mucopolysaccharidosis Type VII Using Genetically Engineered Immortalized Human Amniotic Epithelial Cells

Nakama, Hideyuki, Ohsugi, Keiko, Otsuki, Taisuke, Date, Isao, Kosuga, Motomichi, Okuyama, Torayuki, Sakuragawa, Norio

Journal:

The Tohoku Journal of Experimental Medicine

Year:

2006

Language:

english

File:

PDF, 387 KB

english, 2006

37

Investigator-initiated clinical trial of intra-cerebroventricular enzyme replacement therapy for neuronopathic mucopolysaccharidosis type II

Okuyama, Torayuki, Kosuga, Motomichi, Hamazaki, Takashi, Shintaku, Haruo, Seo, Joo-Hyun

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

38

Genotype of mucopolysaccharidosis type II severe form and the efficacy of enzyme replacement therapy or hematopoietic stem cell transplantation on cognitive function

Tanaka, Akemi, Hamazaki, Takashi, Okuyama, Torayuki, Sakai, Norio, Kato, Koji, Suzuki, Yasuyuki, Yabe, Hiromasa, Kosuga, Motomichi, Shinpo, Michiko, Ishige, Mika, Kadono, Chiho, Kudo, Satoshi, Sawada,

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

39

OEIS complex with del(3)(q12.2q13.2)

Rika Kosaki, Yasuyuki Fukuhara, Motomichi Kosuga, Torayuki Okuyama, Noriko Kawashima, Toshiro Honna, Katsuhiko Ueoka, Kenjiro Kosaki

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 107 KB

english, 2005

40

Progression of Left Ventricular Fibrosis in a Woman with Anderson-Fabry Disease: Longitudinal Observations Using Two-Dimensional Speckle-Tracking Echocardiography

Takase, Yoshiyuki, Nagai, Tomoo, Kubota, Takao, Takeo, Hiroaki, Kosuga, Motomichi, Okuyama, Torayuki, Tabata, Hirotsugu

Journal:

Year:

2018

Language:

english

File:

PDF, 1.08 MB

english, 2018

41

Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings

Yamazaki, Narutoshi, Kosuga, Motomichi, Kida, Kazuhiro, Takei, Go, Fukuhara, Yasuyuki, Matsumoto, Hiroshi, Senda, Masayoshi, Honda, Akihito, Ishiguro, Akira, Koike, Takashi, Yabe, Hiromasa, Okuyama, T

Journal:

Brain and Development

Year:

2019

Language:

english

File:

PDF, 634 KB

english, 2019

42

Normal early development in siblings with novel compound heterozygous variants in ASPM

Moriwaki, Taro, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Miyazaki, Osamu, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Nishimura, Gen, Okuyama, Torayuki, Fukuhara, Yasuyuki

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 534 KB

english, 2019

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски