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
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D et al.
Journal of Inherited Metabolic Disease, 2022
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Mostile G et al.
European Journal of Neurology, 2019
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
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
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