ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

(2014) Jaak Jaeken et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital disorders of glycosylation: new defects and still counting

(2014) Kyle Scott et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorder of glycosylation type Ic: Report of a Japanese case

(2012) Kazushi Ichikawa et al.   BRAIN & DEVELOPMENT

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene

(2011) Sandra Supraha Goreta et al.   Genetic Testing and Molecular Biomarkers

How to find and diagnose a CDG due to defective N-glycosylation

(2011) Dirk J. Lefeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)

(2011) Bradley S. Miller et al.   MOLECULAR GENETICS AND METABOLISM

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due toALG6gene mutations

(2010) JM Drijvers et al.   CLINICAL GENETICS

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

(2010) Mohammed Al-Owain et al.   Orphanet Journal of Rare Diseases