Učitavanje...
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm
OBJECTIVES: Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1‐CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing; the remaining one was identified by finding...
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| Izdano u: | JIMD Rep |
|---|---|
| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley & Sons, Inc.
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7012742/ https://ncbi.nlm.nih.gov/pubmed/32071843 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12086 |
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