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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D et al.
Journal of Inherited Metabolic Disease, 2022
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM et al.
Journal of Inherited Metabolic Disease, 2020
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
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
A new case of ALG8 deficiency (CDG Ih).
Vesela K et al.
Journal of Inherited Metabolic Disease, 2009
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
Stölting T et al.
Molecular Genetics and Metabolism, 2009
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.
Eklund EA et al.
The Journal of Pediatrics, 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
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Léticée N et al.
Molecular Genetics and Metabolism, 0