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

M. J. Acarregui, T. N. George, W. J. Rhead

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)697-700
Number of pages4
JournalJournal of Pediatrics
Volume133
Issue number5
DOIs
StatePublished - Jan 1 1998

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