1.
J Pediatr
; 133(5): 697-700, 1998 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-9821433
RESUMEN
We report siblings with a variant of carbohydrate-deficient glycoprotein syndrome, type 1 (CDGS1), characterized by normal phosphomannomutase and phosphomannose isomerase activities, severe thrombocytopenia, and respiratory compromise. Each infant died after a course of intensive care, suggesting that infants with CDGS1 and normal phosphomannomutase and phosphomannose isomerase activities may have a more severe CDGS1 phenotype.