Cerebellar ataxia and congenital disorder of glycosylation la (CDG-la) with normal routine CDG screening

Cerebellar ataxia and congenital disorder of glycosylation la (CDG-la) with normal routine CDG screening

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Bibliographic Details
Published in:Journal of neurology Vol. 254; no. 10; pp. 1356 - 1358
Main Authors: VERMEER, S, KREMER, H. P. H, LEIJTEN, Q. H, SCHEFFER, H, MATTHIJS, G, WEVERS, R. A, KNOERS, N. A. V. M, MORAVA, E, LEFEBER, D. J
Format: Journal Article
Language:English
Published: Berlin Springer 2007
Subjects:
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diseases of striated muscles. Neuromuscular diseases
Medical sciences
Neurology
Nervous system diseases
Transferrin
Enzyme
Cerebellar ataxia
Glycoprotein
Metabolic diseases
transferrin isofocusing
Medical screening
CDG-Ia
Enzymopathy
Phosphomannomutase
Genetic disease
Isomerases
Intramolecular transferases
Phosphotransferases
Carbohydrate deficient glycoprotein syndrome
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Description
ISSN:0340-5354
1432-1459