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Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure

The most common monogenic cause of neonatal diabetes is mutation in KCNJ11, which encodes a potassium channel in pancreatic beta cells. Some mutations in this gene, including Q52R, have been described in association with neurological deficits, but never with hepatic involvement. We report the second...

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Detalles Bibliográficos
Main Authors: Shaw, Natalie D., Majzoub, Joseph A.
Formato: Artigo
Idioma:Inglês
Publicado: Hindawi Publishing Corporation 2009
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2774578/
https://ncbi.nlm.nih.gov/pubmed/19956803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2009/453240
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