TY  - GEN
AU  - Acarregui,M J
AU  - George,T N
AU  - Rhead,W J
TI  - Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities
SN  - 0022-3476
PY  - 1998///1201
KW  - Congenital Disorders of Glycosylation
KW  - diagnosis
KW  - Fatal Outcome
KW  - Female
KW  - Humans
KW  - Infant, Newborn
KW  - Infant, Premature, Diseases
KW  - Male
KW  - Mannose-6-Phosphate Isomerase
KW  - blood
KW  - Phosphotransferases (Phosphomutases)
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - Thrombocytopenia
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/s0022-3476(98)70115-5
ER  -