Gaucher disease: Progress and ongoing challenges
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Molecular Genetics And Metabolism 2016, 120: 8-21. PMID: 27916601, PMCID: PMC5425955, DOI: 10.1016/j.ymgme.2016.11.006.Peer-Reviewed Original ResearchConceptsGaucher diseaseFirst mutant allelePluripotent stem cell modelsInduced Pluripotent Stem Cell ModelStem cell modelImportant risk factorHigh-throughput screenEnzyme replacement therapyNational InstituteLysosomal enzyme glucocerebrosidaseRecombinant productionReplacement therapyMutant allelesClinical centersRisk factorsMouse modelThroughput screenRoscoe Owen Brady, MD: Remembrances of co-investigators and colleagues
Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Molecular Genetics And Metabolism 2016, 120: 1-7. PMID: 27866832, DOI: 10.1016/j.ymgme.2016.10.010.Peer-Reviewed Original ResearchMeSH KeywordsEnzyme Replacement TherapyGaucher DiseaseHistory, 20th CenturyHistory, 21st CenturyHumansLysosomal Storage DiseasesResearch Personnel