beta-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency

Wada, Y; Arai-Ichinoi, N; Kikuchi, A; Kure, S

Wada, Y (通讯作者)，Tohoku Univ, Dept Pediat, Sch Med, 1-1 Seiryomachi, Sendai, Miyagi 9808574, Japan.

JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (2): 334

Abstract

Galactose mutarotase (GALM) deficiency (MIM# 618881), also known as type IV galactosemia, is caused by biallelic pathogenic variants of GALM. Cataract......

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