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Article

NGLY1 deficiency: Novel variants and literature review.

European journal of medical genetics - 1 Mar 2021

Kariminejad Ariana, Shakiba Marjan, Shams Mehrvash, Namiranian Parva, Eghbali Maryam, Talebi Said, Makvand Mina, Jaeken Jaak, Najmabadi Hossein, Hennekam Raoul C

Abstract excerpt

NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary movements, and decreased or absent tear production. Liver...

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PMID: 33497766
DOI: 10.1016/j.ejmg.2021.104146

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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