Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry

BACKGROUND: NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERAD). ERAD dysfunction has been implicated in other well-described proteinopat...

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Detalles Bibliográficos
Autores principales: Cahan, Eli M., Frick, Steven L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584998/
https://www.ncbi.nlm.nih.gov/pubmed/31217022
http://dx.doi.org/10.1186/s13023-019-1131-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584998/
https://www.ncbi.nlm.nih.gov/pubmed/31217022
http://dx.doi.org/10.1186/s13023-019-1131-4

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