Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants

Autor: Watanabe, Shiena, Lei, Ming, Nakagawa, Eiji, Takeshita, Eri, Inamori, Kei-Ichiro, Shishido, Fumi, Sasaki, Masayuki, Mitsuhashi, Satomi, Matsumoto, Naomichi, Kimura, Yuiko, Iwasaki, Masaki, Takahashi, Yuji, Mizusawa, Hidehiro, Migita, Ohsuke, Ohno, Isao, Inokuchi, Jin-ichi
Zdroj: In Brain and Development May 2023 45(5):270-277
Databáze: ScienceDirect
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