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NGLY1 deficiency: a prospective natural history study

N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disor...

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Detalles Bibliográficos
Autores principales:	Tong, Sandra, Ventola, Pamela, Frater, Christina H, Klotz, Jenna, Phillips, Jennifer M, Muppidi, Srikanth, Dwight, Selina S, Mueller, William F, Beahm, Brendan J, Wilsey, Matt, Lee, Kevin J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10481101/ https://www.ncbi.nlm.nih.gov/pubmed/37379343 http://dx.doi.org/10.1093/hmg/ddad106

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