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
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
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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