Associated Papers
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Vuillaumier-Barrot S et al.
Pediatric Research, 2019
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
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
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
Chantret I et al.
The Journal of Biological Chemistry, 2003
[Congenital disorders of glycosylation].
Durand G et al.
Annales Pharmaceutiques Francaises, 2003
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