Associated Papers
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.
Yuan S et al.
Heliyon, 2024
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ et al.
Journal of Inherited Metabolic Disease, 2022
Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Miao X et al.
Nutrients, 2022
35565658 (PubMed )
Supplement: nutrients-14-01690-s001.zip › Supplementary_Table_S2._Reported_patients_with_NGLY1_mutations.xlsx › Total
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM et al.
Clinical Genetics, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P et al.
Jimd Reports, 2020
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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