Screening and diagnosis of congenital disorders of glycosylation
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference137 articles.
1. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulfatase-A and increased CSF protein—new syndrome?;Jaeken;Pediatr Res,1980
2. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG;Aebi;Glycoconj J,1999
3. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies;Marquardt;Eur J Pediatr,2003
4. Congenital disorders of N-glycosylation including diseases associated with O-as well as N-glycosylation defects;Leroy;Pediatr Res,2006
5. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation;Foulquier;Hum Mol Genet,2007
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