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NGLY1 deficiency—A rare congenital disorder of deglycosylation
Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. To date, only few cases o...
Gorde:
| Argitaratua izan da: | JIMD Rep |
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| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley & Sons, Inc.
2020
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7203651/ https://ncbi.nlm.nih.gov/pubmed/32395402 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12108 |
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