1.
J Inherit Metab Dis
; 29(1): 224-5, 2006 Feb.
Artículo
en Inglés
| MEDLINE
| ID: mdl-16601899
RESUMEN
We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.