Associated Papers
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].
Yang RL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
Tong F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
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