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 language | English (US) |
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Pages (from-to) | 697-700 |
Number of pages | 4 |
Journal | Journal of Pediatrics |
Volume | 133 |
Issue number | 5 |
DOIs | |
State | Published - 1998 |