2024
Wilson disease: Novel Diagnostic and Therapeutic Approaches
Mariño Z, Schilsky M. Wilson disease: Novel Diagnostic and Therapeutic Approaches. Seminars In Liver Disease 2024 PMID: 39496313, DOI: 10.1055/a-2460-8999.Peer-Reviewed Original ResearchWilson's diseaseTrials of gene therapyLiver biopsy specimensDried blood spotsCase of WDBiliary copper excretionBiopsy specimensGene therapyDiagnostic advancesMonitoring therapyWD diagnosisNewborn screeningLiver diseaseCopper excretionTherapeutic approachesBlood spotsTherapyTherapeutic objectivesDiseaseDiagnosisLiverCopper assayPatientsExcretion
2000
Inherited metabolic disease
Schilsky M, Mistry P. Inherited metabolic disease. Current Opinion In Gastroenterology 2000, 16: 219-230. PMID: 17023879, DOI: 10.1097/00001574-200005000-00004.Peer-Reviewed Original ResearchGene productsMetal metabolismGenetic disordersLysosomal storage disorderCommon lysosomal storage disorderMetabolismMetabolic diseasesStorage disorderDisease pathophysiologyDiscoveryGenesProteinGaucher diseaseNew informationTherapeutic approachesRecombinant enzyme replacement therapyWilson's diseaseIdentification