Portal de Periódicos da CAPES

Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

1998; Elsevier BV; Volume: 133; Issue: 5 Linguagem: Inglês

10.1016/s0022-3476(98)70115-5

1097-6833

Michael J. Acarregui, T. Neville George, William J. Rhead,

Platelet Disorders and Treatments

We report siblings with a variant of carbohydrate-deficient g1ycoprotein 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. (J Pediatr 1998;133;697-700)