A case of glycogen storage disease type Ib / 소아과
Korean Journal of Pediatrics
;
: 1383-1387, 2009.
Article
in English
| WPRIM
| ID: wpr-55856
ABSTRACT
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/microL 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).
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Bacterial Infections
/
Glycogen Storage Disease
/
Glucose-6-Phosphate
/
Mutation, Missense
/
Glycogen
/
Neutropenia
/
Neutrophils
Limits:
Humans
/
Infant
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2009
Type:
Article
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