2022
Rare lysosomal disease registries: lessons learned over three decades of real-world evidence
Mistry P, Kishnani P, Wanner C, Dong D, Bender J, Batista J, Foster J. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet Journal Of Rare Diseases 2022, 17: 362. PMID: 36244992, PMCID: PMC9573793, DOI: 10.1186/s13023-022-02517-0.Peer-Reviewed Original ResearchTherapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science
Grabowski GA, Mistry PK. Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science. Molecular Genetics And Metabolism 2022, 137: 81-91. PMID: 35933791, DOI: 10.1016/j.ymgme.2022.07.014.Peer-Reviewed Original ResearchTransformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise
Verma IC, El-Beshlawy A, Tylki-Szymańska A, Martins A, Duan Y, Collin-Histed T, van der Linde MS, Mansour R, Dũng VC, Mistry PK. Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise. Orphanet Journal Of Rare Diseases 2022, 17: 87. PMID: 35369888, PMCID: PMC8977120, DOI: 10.1186/s13023-022-02192-1.Peer-Reviewed Original Research
2020
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. Molecular Genetics And Metabolism 2020, 131: 116-123. PMID: 32616389, DOI: 10.1016/j.ymgme.2020.06.008.Peer-Reviewed Original ResearchMeSH KeywordsCarbon MonoxideEnzyme Replacement TherapyHumansLungLysosomal Storage DiseasesMutationNiemann-Pick DiseasesSphingomyelin PhosphodiesteraseSpleenSplenomegalyConceptsAcid sphingomyelinase deficiencyDisease burdenLipid profilePrevalent clinical featuresRespiratory-related complicationsAtherogenic lipid profileAbnormal lipid profileProgressive lung diseaseLung diffusion capacityEnzyme replacement therapyRare lysosomal storage disorderDiverse disease spectrumDegree of abnormalityNiemann-Pick diseaseLysosomal storage disorderLung functionClinical featuresClinical parametersReplacement therapyChronic formClinical burdenLung diseaseNeurovisceral diseaseSpleen volumeLiver fibrosis
2016
Roscoe 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 PersonnelOvercoming the Next Barriers to Successful Therapy.
Cohen IJ, Baris H, Mistry PK, Sands MS. Overcoming the Next Barriers to Successful Therapy. Pediatric Endocrinology Reviews : PER 2016, 13 Suppl 1: 629. PMID: 27491209.Peer-Reviewed Original Research
2014
Treatment for Lsds: real options for several diseases. Forward.
Cohen IJ, Baris HN, Mistry PK, Sands MS. Treatment for Lsds: real options for several diseases. Forward. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 71. PMID: 25345087.Peer-Reviewed Original Research
2013
Treatment for LSDs: no longer just enzyme replacement therapy for Gaucher disease. Foreword.
Cohen IJ, Baris H, Mistry PK. Treatment for LSDs: no longer just enzyme replacement therapy for Gaucher disease. Foreword. Pediatric Endocrinology Reviews : PER 2013, 11 Suppl 1: 58. PMID: 24380122.Peer-Reviewed Original Research