Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling-Reference-Cited by-同舟云学术

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

Published:2001 Issue:1 Volume:101 Page:46-49
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Drouin-Garraud Val�rie,Belgrand Mathilde,Gr�newald St�phanie,Seta Nathalie,Dacher Jean-Nicolas,H�nocq Alain,Matthijs Gert,Cormier-Daire Val�rie,Fr�bourg Thierry,Saugier-Veber Pascale

Publisher

Wiley

Subject

Genetics(clinical)

Reference23 articles.

1. Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome

2. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

3. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

4. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome

5. Syndrome d'hypoglycosylation des glycoprotéines sériques

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