Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
Author:
Publisher
Wiley
Subject
Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1016/0014-5793(95)01357-1/fullpdf
Reference16 articles.
1. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90
2. The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?
3. Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
4. 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)
5. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome
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