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Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and pseudo-hypertriglyceridemia. Both i...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Korkut, Sabriye, Baştuğ, Osman, Raygada, Margarita, Hatipoğlu, Nihal, Kurtoğlu, Selim, Kendirci, Mustafa, Lyssikatos, Charalampos, Stratakis, Constantine A.
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5198007/
https://ncbi.nlm.nih.gov/pubmed/27087023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2539
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