Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:5.4.2.8 (
phosphomannomutase
)
238
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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:Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities. 982 33
