Cargando…
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...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
|
| Materias: | |
| 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 |