Carbohydrate‐deficient glycoprotein syndrome: Beyond the screen

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 23; no. 4; pp. 396 - 398
Main Authors Fletcher, J. M., Matthijs, G., Jaeken, J., Van Schaftingen, E., Nelson, P.V.
Format Journal Article
LanguageEnglish
Published Dordrecht Kluwer Academic Publishers 01.06.2000
Springer
Blackwell Publishing Ltd
Subjects
beta-N-Acetylhexosaminidases - analysis
Biological and medical sciences
Cells, Cultured
Child
Congenital Disorders of Glycosylation - blood
Congenital Disorders of Glycosylation - diagnosis
Congenital Disorders of Glycosylation - enzymology
Congenital Disorders of Glycosylation - genetics
Errors of metabolism
Female
Fibroblasts - cytology
Fibroblasts - enzymology
Humans
Infant
Isoelectric Focusing
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Phosphotransferases (Phosphomutases) - blood
Phosphotransferases (Phosphomutases) - deficiency
Phosphotransferases (Phosphomutases) - genetics
Transferrin - analysis
Human
Nervous system diseases
Transferrin
Glycoprotein
Clinical form
Metabolic diseases
Infant
Glycosylation
Normal
Enzymopathy
Genetic disease
Case study
Isoelectrical focusing
Type I
Child
Carbohydrate deficient glycoprotein syndrome
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Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005660004047