Phosphomannomutase deficiency is the main cause of carbohydrate‐deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 20; no. 3; pp. 447 - 449
Main Authors Jaeken, J., Artigas, J., Barone, R., Fiumara, A., Koning, T. J., Poll‐The, B. T., Rijk‐van Andel, J. F., Hoffmann, G. F., Assmann, B., Mayatepek, E., Pineda, M., Vilaseca, M. A., Saudubray, J. M., Schlüter, B., Wevers, R., Van Schaftingen, E.
Format Journal Article Conference Proceeding
LanguageEnglish
Published Dordrecht Kluwer Academic Publishers 01.07.1997
Springer
Subjects
Biological and medical sciences
Congenital Disorders of Glycosylation - enzymology
Errors of metabolism
Female
Fibroblasts - enzymology
Humans
Isoelectric Focusing
Leukocytes - enzymology
Lymphocytes - enzymology
Male
Medical sciences
Metabolic diseases
Phosphotransferases (Phosphomutases) - deficiency
Proteins and glycoproteins
Human
Nervous system diseases
Pathophysiology
Enzyme
Deficiency
Metabolic diseases
Glycoproteins
Enzymopathy
Phosphomannomutase
Genetic disease
Isomerases
Enzymatic activity
Intramolecular transferases
Phosphotransferases
Carbohydrate deficient glycoprotein syndrome
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Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005331523477