Mahoko Furujo

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

Mahoko Furujo, Toshihide Kubo, Motomichi Kosuga et al. · Molecular Genetics and Metabolism · 2011 · 60 citations

Enzyme Replacement Therapy, Immunodeficiencies, Pathogenesis +5

Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism

Kazumi Umeki, Takuya Kotani, Junichi KAWANO et al. · European Journal of Endocrinology · 2002 · 53 citations

Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders

Taizo Ishikawa, Keiko Imamura, Takayuki Kondo et al. · Human Molecular Genetics · 2016 · 45 citations · Full text

Genetic Disorder, Medicine, Genetics +12

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

Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama · Molecular Genetics and Metabolism Reports · 2017 · 36 citations · Full text

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan

Masayoshi Nagao, Toju Tanaka, Mahoko Furujo · Molecular Genetics and Metabolism · 2013 · 20 citations

Newborn Screening, Mendelian Disorder, Genetic Disorder +11