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
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
Stölting T et al.
Molecular Genetics and Metabolism, 2009
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Schollen E et al.
Journal of Medical Genetics, 2004
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