NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I, Sudrié-Arnaud B, Lecoquierre F, Raymond K, Ducatez F, Guerrot AM, Snanoudj S, Coutant S, Saugier-Veber P, Marret S, Nicolas G, Tebani A, Bekri S.
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Life (Basel). 2021 Feb 27;11(3):187. doi: 10.3390/life11030187.
Life (Basel). 2021.
PMID: 33673403
Free PMC article.