Kouji Isogai

Evaluation of Accumulated Mucopolysaccharides in the Brain of Patients with Mucopolysaccharidoses by 1H-Magnetic Resonance Spectroscopy before and after Bone Marrow Transplantation

Yukitoshi Takahashi, Kazuko Sukegawa, Minako Aoki et al. · Pediatric Research · 2001 · 53 citations

Medicine, Neurology, Neuroscience +11

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Shunji Tomatsu, Seiji Fukuda, Alan Cooper et al. · Human Mutation · 1997 · 42 citations

Life Sciences, Genetics, Molecular Genetics +15

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

Kazuko Sukegawa, Shunji Tomatsu, Toshiyuki Fukao et al. · Human Mutation · 1995 · 40 citations

Life Sciences, Genetics, Molecular Genetics +16

Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

Shunji Tomatsu, Seiji Fukuda, Alan Cooper et al. · Human Mutation · 1995 · 16 citations

Life Sciences, Genetics, Molecular Genetics +7

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

Shunji Tomatsu, Seiji Fukuda, Alan Cooper et al. · Human Mutation · 1998 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10