Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). [electronic resource]
Producer: 19950817Description: 797-805 p. digitalISSN:- 0014-2956
- Adolescent
- Adult
- Aged
- Anemia, Dyserythropoietic, Congenital -- diagnosis
- Carbohydrate Sequence
- Child
- Child, Preschool
- Diagnosis, Differential
- Erythrocyte Membrane -- metabolism
- Female
- Genes, Recessive
- Humans
- Lectins -- metabolism
- Leukocytes, Mononuclear -- enzymology
- Male
- Mannosidases -- metabolism
- Membrane Glycoproteins -- metabolism
- Metabolism, Inborn Errors -- diagnosis
- Middle Aged
- Molecular Sequence Data
- N-Acetylglucosaminyltransferases -- deficiency
- Pedigree
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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