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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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| Publicado no: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Galenos Publishing
2016
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| 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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