PMM2-CDG: Phenotype and genotype in four affected family members
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference20 articles.
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2. Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia;Barone;Am. J. Med. Genet. A,2008
3. Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs);Biffi;Clin. Biochem.,2007
4. Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia);Casado;Cerebellum,2012
5. Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation;Colomé;Clin. Chem. Lab. Med.,2000
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