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Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is ca...
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| Publicado no: | EJIFCC |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Communications and Publications Division (CPD) of the IFCC
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5387702/ https://ncbi.nlm.nih.gov/pubmed/28439221 |
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