NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing. The aim of this study is to provide the clini...

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Publicado en:Life (Basel)
Autores principales: Dabaj, Ivana, Sudrié-Arnaud, Bénédicte, Lecoquierre, François, Raymond, Kimiyo, Ducatez, Franklin, Guerrot, Anne-Marie, Snanoudj, Sarah, Coutant, Sophie, Saugier-Veber, Pascale, Marret, Stéphane, Nicolas, Gaël, Tebani, Abdellah, Bekri, Soumeya
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7996810/
https://ncbi.nlm.nih.gov/pubmed/33673403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/life11030187
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