Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG

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), oc...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8282734/
https://ncbi.nlm.nih.gov/pubmed/33583022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12367
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