A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE): A Complex Case of Variant GALE

Epimerase deficiency galactosemia is an autosomal recessive disorder that results from partial impairment of UDP-galactose 4′-epimerase (GALE), the third enzyme in the Leloir pathway of galactose metabolism. Clinical severity of epimerase deficiency ranges from potentially lethal to apparently benig...

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Bibliografiske detaljer
Main Authors: Liu, Ying, Bentler, Kristi, Coffee, Bradford, Chhay, Juliet S., Sarafoglou, Kyriakie, Fridovich-Keil, Judith L.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2012
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3575048/
https://ncbi.nlm.nih.gov/pubmed/23430501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_153
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