Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery
Reference26 articles.
1. Congenital disorder of glycosylation type 1a: benign clinical course in a new genetic variant;Mader;Childs Nerv Syst,2002
2. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies;Marquardt;Eur J Pediatr,2003
3. Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I;Mizughishi;Brain Dev,1999
4. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counselling;Drouin-Garraud;Am J Med Genet,2001
5. Functional significance of PMM2 mutations in mildly affected patients with congenital disorder of glycosylation Ia;Westphal;Genet Med,2001
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