Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference20 articles.
1. N-linked protein glycosylation in the ER;Aebi;Biochimica et Biophysica Acta (BBA)-Mol. Cell Res.,2013
2. Genetic defects in the human glycome;Freeze;Nat. Rev. Genet.,2006
3. Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase;Chantret;J. Biol. Chem.,2002
4. Recognizable phenotypes in CDG;Ferreira;J. Inherit. Metab. Dis.,2018
5. Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig;Zdebska;Pediatr. Res.,2003
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