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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Detalles Bibliográficos
Autores principales: Korkut, Sabriye, Baştuğ, Osman, Raygada, Margarita, Hatipoğlu, Nihal, Kurtoğlu, Selim, Kendirci, Mustafa, Lyssikatos, Charalampos, Stratakis, Constantine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198007/
https://www.ncbi.nlm.nih.gov/pubmed/27087023
http://dx.doi.org/10.4274/jcrpe.2539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198007/
https://www.ncbi.nlm.nih.gov/pubmed/27087023
http://dx.doi.org/10.4274/jcrpe.2539

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