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

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...

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Bibliographic Details
Main Authors: Eli M. Cahan, Steven L. Frick
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NGLY1 deficiency
Orthopaedics
Natural history
Standard of care
Disease advocacy organizations
Evidence-based medicine
Online Access:http://link.springer.com/article/10.1186/s13023-019-1131-4

Internet

http://link.springer.com/article/10.1186/s13023-019-1131-4

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