期刊
CLINICAL CASE REPORTS
卷 6, 期 3, 页码 479-483出版社
WILEY
DOI: 10.1002/ccr3.1387
关键词
Glycation; hyperinsulinemia; hypoglycemia; mannose phosphate isomerase
Key Clinical Message We report a 4 years girl with congenital disorders of glycosylation (CDG) type Ib due to a novel homozygous mutation in MPI gene. She presented with diazoxide-responsive hyperinsulinemic hypoglycemia. CDG should be considered in unexplained hypoglycemia particularly in consanguineous families. Diagnosis enables monitoring/prevention of disease comorbidities and early effective treatment.
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