Associated Papers
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J et al.
American Journal of Medical Genetics. Part A, 2021
34467644 (PubMed )
Supplement: AJMG-185-3494-s003.xlsx › FINAL
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L et al.
Glycoconjugate Journal, 2019
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Jones MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Kranz C et al.
American Journal of Medical Genetics. Part A, 2007
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.
Eklund EA et al.
Molecular Genetics and Metabolism, 2005
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.
Di Rocco M et al.
Journal of Inherited Metabolic Disease, 2005
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