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
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2c._Multiple_occurences
Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.
Boerrigter MM et al.
Genes, 2023
Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.
Apple B et al.
Kidney International, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
36938085 (PubMed )
Supplement: mmc2.xlsx › Liste_VUS
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D et al.
Journal of Inherited Metabolic Disease, 2022
Molecular Mechanisms of Isolated Polycystic Liver Diseases.
Yu Z et al.
Frontiers in Genetics, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
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
A new case of ALG8 deficiency (CDG Ih).
Vesela K et al.
Journal of Inherited Metabolic Disease, 2009
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