Publications by authors named "Tetsumin So"

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Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.
Machiko Toki, Kazushige Tsunoda, Tetsumin So, Motomichi Kosuga, Torayuki Okuyama

Hum Genome Var· September 2025

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Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C.
Muneaki Matsuo, Takafumi Sakakibara, Yoshio Sakiyama, Tetsumin So, Motomichi Kosuga

Brain Dev· May 2024

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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto

Hum Genome Var· September 2022

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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.
Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga

Mol Genet Metab Rep· December 2020

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Normal early development in siblings with novel compound heterozygous variants in .
Taro Moriwaki, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Osamu Miyazaki

Hum Genome Var· January 2020

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