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J Pediatr. 1998 Nov;133(5):697-700.

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

Author information

1
Department of Pediatrics, University of Iowa College of Medicine, Iowa City 52242-1083, USA.

Abstract

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.

PMID:
9821433
DOI:
10.1016/s0022-3476(98)70115-5
[Indexed for MEDLINE]

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