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 Research
2010
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 291-300. PMID: 20354791, PMCID: PMC3008397, DOI: 10.1007/s10545-010-9070-1.Peer-Reviewed Original ResearchConceptsPrevalence of gallstonesType 1 Gaucher diseaseBody mass indexBile lipid analysisGaucher diseaseLipoprotein cholesterolHigh low-density lipoprotein cholesterolLow high-density lipoprotein cholesterolHigh-density lipoprotein cholesterolLow-density lipoprotein cholesterolMultiple logistic regression analysisType 1 Gaucher's diseaseBile lipid compositionBiliary lipid secretionCholesterol gallstone diseaseLogistic regression analysisMetabolic syndromeGallstone diseaseLDL cholesterolStudy cohortLipoprotein profileMass indexFemale sexBile compositionBiliary lipidsAbnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
Hůlková H, Poupětová H, Harzer K, Mistry P, Aerts JM, Elleder M. Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries. Journal Of Inherited Metabolic Disease 2010, 33: 69-78. PMID: 20049530, PMCID: PMC2828558, DOI: 10.1007/s10545-009-9018-5.Peer-Reviewed Original Research
1993
The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.
Mistry PK, Cox TM. The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. Journal Of Medical Genetics 1993, 30: 889. PMID: 8301642, PMCID: PMC1016594, DOI: 10.1136/jmg.30.11.889.Peer-Reviewed Original Research