A case of glycogen storage disease type Ib
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چکیده
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/μL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). (Korean J Pediatr 2009;52:1383-1387)
منابع مشابه
Glycogen Storage Disease type Ib: a paediatric case report.
AIM This paper addresses the need of the dental literature to document cases of Glycogen Storage Disease (GSD) type Ib with focus on the paediatric management of oral and dental problems and the potential complications arising from the increased susceptibility to bacterial infections, cariogenicity, and blood diathesis. METHODS Previous medical and dental papers on GSD type Ib published from ...
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تاریخ انتشار 2010