NGLY1 deficiency—A rare congenital disorder of deglycosylation

Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. To date, only few cases o...

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Detalles Bibliográficos
Autores principales: Lipari Pinto, Patrícia, Machado, Catarina, Janeiro, Patrícia, Dupont, Juliette, Quintas, Sofia, Sousa, Ana Berta, Gaspar, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203651/
https://www.ncbi.nlm.nih.gov/pubmed/32395402
http://dx.doi.org/10.1002/jmd2.12108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203651/
https://www.ncbi.nlm.nih.gov/pubmed/32395402
http://dx.doi.org/10.1002/jmd2.12108

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