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Congenital Hyperinsulinism Caused by Mutations in ABCC8 (SUR1) Gene.
Indian Pediatr ; 2011 Sptember; 48(9): 733-734
Article in English | IMSEAR | ID: sea-168963
ABSTRACT
Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. We report a 2.5 year old girl with severe congenital hyperinsulinism. Mutation analysis showed that the child is a compound heterozygote for two missense mutations in the ABCC8 gene.

Full text: Available Index: IMSEAR (South-East Asia) Language: English Journal: Indian Pediatr Year: 2011 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Language: English Journal: Indian Pediatr Year: 2011 Type: Article