Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs)
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference10 articles.
1. Congenital disorders of glycosylation: a review;Grünewald;Pediatr Res,2002
2. Altered glycan structures: the molecular basis of congenital disorders of glycosylation;Freeze;Curr Opin Struct Biol,2005
3. Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation;Colomè;Clin Chem Lab Med,2000
4. Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult;Schoffer;Mov Disord,2006
5. Quantification of carbohydrate-deficient transferrin by ion-exchange chromatography with an enzymatically prepared calibrator;Renner;Clin Chem,1997
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3. Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG);Orphanet Journal of Rare Diseases;2020-09-22
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