Associated Papers
ALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling.
Huang Y et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
ALG8-CDG: novel patients and review of the literature.
Höck M et al.
Orphanet Journal of Rare Diseases, 2015
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.
Sorte H et al.
European Journal of Medical Genetics, 2012
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