AB110. Genotype and phenotype of 107 patients with congenital hyperinsulinism

BACKGROUND: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cell. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF1A, HNF4A and UCP2). Severe forms of congenit...

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Dades bibliogràfiques
Publicat a:Ann Transl Med
Autors principals: Vu, Dung Chi, Can, Ngoc T. B., Nguyen, Khanh Ngoc, Bui, Thao Phuong, Le, Hai Thanh, Nguyen, Dat Phu, Dang, Duong Anh, Ellard, Sian
Format: Artigo
Idioma:Inglês
Publicat: AME Publishing Company 2017
Matèries:
Molecular Genetics, Genomics, Mechanisms of Diseases
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641753/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s110
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