Joo-Hyun Seo

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

Motomichi Kosuga, Ryuichi Mashima, Asami Hirakiyama et al. · Molecular Genetics and Metabolism · 2016 · 74 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +10

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

Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki et al. · Molecular Genetics and Metabolism Reports · 2017 · 53 citations · Full text

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

Joo-Hyun Seo, Torayuki Okuyama, Elsa Shapiro et al. · Molecular Genetics and Metabolism Reports · 2020 · 34 citations · Full text

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

Joo-Hyun Seo, Motomichi Kosuga, Takashi Hamazaki et al. · Molecular Therapy — Methods & Clinical Development · 2021 · 34 citations · Full text

Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study

Joo-Hyun Seo, Motomichi Kosuga, Takashi Hamazaki et al. · Molecular Genetics and Metabolism · 2023 · 16 citations

Final Report, Neurology, Neuropathology +3