NGLY1 deficiency: a prospective natural history study
Tong S, Ventola P, Frater C, Klotz J, Phillips J, Muppidi S, Dwight S, Mueller W, Beahm B, Wilsey M, Lee K. NGLY1 deficiency: a prospective natural history study. Human Molecular Genetics 2023, 32: 2787-2796. PMID: 37379343, PMCID: PMC10481101, DOI: 10.1093/hmg/ddad106.Peer-Reviewed Original ResearchConceptsN-glycanase 1Natural history studiesTransient elevation of transaminasesDevelopmental delayLength-dependent sensorimotor polyneuropathySevere global developmental delayElevation of transaminasesProspective natural history studyMullen Scales of Early LearningAutosomal recessive disorderSevere liver diseaseGlobal developmental delayIndependent of ageHyperkinetic movement disordersMotor skill problemsMotor functionSensorimotor polyneuropathyClinical featuresYounger patientsTransient elevationDisease courseBothersome symptomsRecessive disorderClinical trialsReduced sweating response
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