Epimerase-Deficiency Galactosemia Is Not a Binary Condition

Epimerase-deficiency galactosemia results from the impairment of UDP-galactose 4′-epimerase (GALE), the third enzyme in the Leloir pathway of galactose metabolism. Originally identified as a clinically benign “peripheral” condition with enzyme impairment restricted to circulating blood cells, GALE d...

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Main Authors: Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, Fridovich-Keil, Judith L.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380226/
https://ncbi.nlm.nih.gov/pubmed/16385452
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