Condition: NGLY1 deficiency


rs1135401728 in NGLY1 gene and NGLY1 deficiency PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 25900930 2015 A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

PMID 25220016 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28330790 2017 Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.