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NGLY1
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Summary
General Info
Body Atlas
Most Correlated Tissues
Dendritic (plasmacytoid) cell
Basophil of peripheral blood
Hematopoietic stem cell of bone marrow
Natural killer cell of peripheral blood
B lymphocyte (naive) of spleen
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Literature
Most Relevant Literature
Ever-expanding NGLY1 biology.
Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoid…
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines.
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
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Clinical Trials
Most Relevant Clinical Trials
Evaluate the Effect of Oral GlcNAc Supplementation in Patients With NGLY1 Deficiency
NGLY1 Deficiency: A Prospective Natural History Study
Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
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