Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

od Furujo, Mahoko, Kosuga, Motomichi, Okuyama, Torayuki
Izdano u Mol Genet Metab Rep (2017)

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

od Mashima, Ryuichi, Sakai, Eri, Kosuga, Motomichi, Okuyama, Torayuki
Izdano u Mol Genet Metab Rep (2016)

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

od Mashima, Ryuichi, Sakai, Eri, Tanaka, Misa, Kosuga, Motomichi, Okuyama, Torayuki
Izdano u Mol Genet Metab Rep (2016)

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

od Seo, Joo-Hyun, Okuyama, Torayuki, Shapiro, Elsa, Fukuhara, Yasuyuki, Kosuga, Motomichi
Izdano u Mol Genet Metab Rep (2020)

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II

od Seo, Joo-Hyun, Kosuga, Motomichi, Hamazaki, Takashi, Shintaku, Haruo, Okuyama, Torayuki
Izdano u Mol Ther Methods Clin Dev (2021)

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

od Mashima, Ryuichi, Tanaka, Misa, Sakai, Eri, Nakajima, Hidenori, Kumagai, Tadayuki, Kosuga, Motomichi, Okuyama, Torayuki
Izdano u Mol Genet Metab Rep (2016)

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

od Takase, Yoshiyuki, Nagai, Tomoo, Kubota, Takao, Takeo, Hiroaki, Kosuga, Motomichi, Okuyama, Torayuki, Tabata, Hirotsugu
Izdano u CASE (Phila) (2018)

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

od Fukuhara, Yasuyuki, Fuji, Naoko, Yamazaki, Narutoshi, Hirakiyama, Asami, Kamioka, Tetsuharu, Seo, Joo-Hyun, Mashima, Ryuichi, Kosuga, Motomichi, Okuyama, Torayuki
Izdano u Mol Genet Metab Rep (2017)

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

od Fukuhara, Yasuyuki, Miura, Ai, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Yanagi, Kumiko, Kaname, Tadashi, Yamagata, Takanori, Sakuraba, Hitoshi, Okuyama, Torayuki
Izdano u Mol Genet Metab Rep (2020)

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

od Moriwaki, Taro, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Miyazaki, Osamu, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Nishimura, Gen, Okuyama, Torayuki, Fukuhara, Yasuyuki
Izdano u Hum Genome Var (2020)

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 Year...

od Kobayashi, Hiroshi, Ariga, Masamichi, Sato, Yohei, Fujiwara, Masako, Fukasawa, Nei, Fukuda, Takahiro, Takahashi, Hiroyuki, Ikegami, Masahiro, Kosuga, Motomichi, Okuyama, Torayuki, Eto, Yoshikatsu, Ida, Hiroyuki
Izdano u JIMD Rep (2018)

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

od 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
Izdano u Clin Dysmorphol (2019)

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

od Matsuoka, Takashi, Miwa, Yoshiyuki, Tajika, Makiko, Sawada, Madoka, Fujimaki, Koichiro, Soga, Takashi, Tomita, Hideshi, Uemura, Shigeru, Nishino, Ichizo, Fukuda, Tokiko, Sugie, Hideo, Kosuga, Motomichi, Okuyama, Torayuki, Umeda, Yoh
Izdano u Mol Genet Metab Rep (2016)

Overcoming the barriers to diagnosis of Morquio A syndrome

od Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew Sing, Fietz, Michael, Fu, Antony, Jin, Dong Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, Nancy J, Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Toh, Teck-Hock, Yang, Albert D, Lin, Shuan-Pei
Izdano u Orphanet J Rare Dis (2014)