Galactose Epimerase Deficiency: Expanding the Phenotype

Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4′-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency. Patient 1: The first child was born with a dysmo...

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Pubblicato in:JIMD Rep
Autori principali: Dias Costa, Filipa, Ferdinandusse, Sacha, Pinto, Carla, Dias, Andrea, Keldermans, Liesbeth, Quelhas, Dulce, Matthijs, Gert, Mooijer, Petra A., Diogo, Luísa, Jaeken, Jaak, Garcia, Paula
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740041/
https://ncbi.nlm.nih.gov/pubmed/28247339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_10
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