Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry
Abstract 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 pro...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-019-1131-4 |