Liver involvement in NGLY1 congenital disorder of deglycosylation
N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including 2 of them from Poland. The most characteristic symptoms include global developmental disability, hyperkinetic movement disorder, hypo-/alacrimia, and elevated serum transaminases....
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| Huvudupphov: | , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
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Termedia Publishing House
2020-02-01
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| Serie: | Polish Journal of Pathology |
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| Länkar: | https://www.termedia.pl/Liver-involvement-in-NGLY1-congenital-disorder-of-deglycosylation,55,39878,1,1.html |
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