Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference9 articles.
1. Congenital disorders of glycosylation (CDG): It's all in it!;Jaeken;J Inherit Metab Dis,2003
2. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases;De Lonlay;J Med Genet,2001
3. Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia;Miossec-Chauvet;Neuropediatrics,2003
4. Neurological findings in carbohydrate-deficient glycoprotein syndrome;Blennow;Acta Paediatr Scand Suppl,1991
5. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling;Drouin-Garraud;Am J Med Genet,2001
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