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Acta Oto-Laryngologica|March 17, 2007
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1Tatsuo Matsunaga, Michiyo Okada, Shin-Ichi Usami, et al.
Molecular Genetics and Metabolism Reports|October 27, 2025
Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis IIIJoo-Hyun Seo, Wakana Sou, Yasutsugu Chinen, et al.
Molecular Genetics and Metabolism Reports|July 20, 2018
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individualsRyuichi Mashima, Masamitsu Maekawa, Aya Narita, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancerMaki Fukami, Torayuki Okuyama, Shunji Yamamori, et al.
Scientific Reports|May 15, 2023
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutationRyuichi Mashima, Mari Ohira, Torayuki Okuyama, et al.
Pediatric Radiology|July 23, 2017
Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosisYoshiko Matsubara, Osamu Miyazaki, Motomichi Kosuga, et al.
Molecular Genetics and Metabolism Reports|June 23, 2016
The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometryRyuichi Mashima, Eri Sakai, Misa Tanaka, et al.
Journal of Human Genetics|March 15, 2008
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type IKanako Sugawara, Seiji Saito, Kazuki Ohno, et al.
Molecular Genetics and Metabolism|February 5, 2013
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblingsGo Tajima, Nobuo Sakura, Motomichi Kosuga, et al.
Molecular Therapy. Methods & Clinical Development|March 26, 2021
Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type IIJoo-Hyun Seo, Motomichi Kosuga, Takashi Hamazaki, et al.
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