Article
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Journal of inherited metabolic disease - 1 Jul 2021
Alsharhan Hind, Ng Bobby G, Daniel Earnest James Paul, Friedman Jennifer, Pivnick Eniko K, Al-Hashem Amal, Faqeih Eissa Ali, Liu Pengfei, Engelhardt Nicole M, Keller Kierstin N, Chen Jie, Mazzeo Pamela A, Rosenfeld Jill A, Bamshad Michael J, Nickerson Deborah A, Raymond Kimiyo M, Freeze Hudson H, He Miao, Edmondson Andrew C, Lam Christina
Abstract excerpt
Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3-CDG frequently exhibit severe neurological involvement (epilepsy, microcephaly, and hypotonia), ocular anomalies, dysmorphic features, skeletal anomalies, and feeding difficulties. We present 10 unreported...
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