Article

Progressive Neurodegeneration, Motor Decline, and Premature Mortality in Aging Ngly1 Deficient Rats

2025-09-15

Abstract excerpt

<title>Abstract</title> <p> N-glycanase 1 (NGLY1) Deficiency is an ultra-rare autosomal recessive disorder of deglycosylation caused by loss-of-function mutations in the <italic>NGLY1</italic> gene. Patient symptoms are characterized by developmental delay, intellectual disability, hyperkinetic movement disorder, elevated liver enzymes, (hypo)alacrima, and peripheral neuropathy. Despite supportive care, affect...

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Literature Corpus work: 1009acae-4b2f-5967-b426-5c75191d8cee
DOI: 10.21203/rs.3.rs-7014298/v1

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