ALG11-CDG syndrome: expanding the phenotype

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11-CDG due to novel mutations, review the literatu...

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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: Haanpää, Maria K, Ng, Bobby G., Gallant, Natalie M., Singh, Kathryn E., Brown, Candida, Kimonis, Virginia, Freeze, Hudson H., Muller, Eric
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6426632/
https://ncbi.nlm.nih.gov/pubmed/30676690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61046
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