A5032992133- Genetics and Neurodevelopmental Disorders
- Pancreatic function and diabetes
- Glycosylation and Glycoproteins Research
- Drug Transport and Resistance Mechanisms
- Genomic variations and chromosomal abnormalities
- Adenosine and Purinergic Signaling
Stanford University
2022-2024
Lucile Packard Children's Hospital
2022
Abstract N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function NGLY1, cytosolic enzyme that deglycosylates other proteins. It characterized severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation transaminases, (hypo)alacrima and progressive, diffuse, length-dependent sensorimotor polyneuropathy. A prospective natural history study (NHS) was conducted to elucidate...
Abstract N-glycanase 1 (NGLY1) Deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function NGLY1, cytosolic enzyme that deglycosylates other proteins. It characterized severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation transaminases, (hypo)alacrima, and progressive, diffuse, length-dependent sensorimotor polyneuropathy. A prospective natural history study (NHS) was conducted to elucidate...