2019
Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease
Afinogenova Y, Ruan J, Yang R, Kleytman N, Pastores G, Lischuk A, Mistry PK. Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. Molecular Genetics And Metabolism 2019, 128: 62-67. PMID: 31358474, PMCID: PMC6864269, DOI: 10.1016/j.ymgme.2019.07.014.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher disease patientsYKL-40 levelsYKL-40Replacement therapyDisease patientsGaucher diseaseBone involvementHealthy controlsProgranulin levelsLong-term enzyme replacement therapyHigh serum YKL-40Cathepsin DSerum YKL-40 levelsGaucher disease mouse modelContribution of fibrosisLower progranulin levelsSerum YKL-40Chemokine ligand 18Disease mouse modelSevere bone involvementCathepsin SPersistent splenomegalyResidual splenomegalyGene array analysis
2014
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 72-81. PMID: 25345088, PMCID: PMC4520262.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Gaucher diseaseNatural historyAvascular osteonecrosisType 1 Gaucher diseaseComplex multisystem phenotypeStandard of careProgressive neurodegenerative diseaseType 3 diseaseEnzyme replacement therapyDisease type 1Bone involvementLysosomal storage disorderLytic lesionsReplacement therapyTreatment optionsBone marrowType 2Clinical phenotypeMetabolic defectsType 1Multisystem phenotypeNeurodegenerative diseasesBiallelic mutationsDisease
2006
Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients
El‐Beshlawy A, Ragab L, Youssry I, Yakout K, El‐Kiki H, Eid K, Mansour IM, El‐Hamid S, Yang M, Mistry PK. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. Journal Of Inherited Metabolic Disease 2006, 29: 92-98. PMID: 16601874, DOI: 10.1007/s10545-006-0121-6.Peer-Reviewed Original ResearchConceptsMagnetic resonance imagingBone involvementSkeletal diseaseGaucher diseaseBone painGBA genotypeReplacement therapySkeletal involvementBone diseaseComplete symptomatic remissionEarly skeletal involvementMonths of ERTAbnormal radiographic findingsCorrelation of severityGaucher disease patientsEnzyme replacement therapyPaucity of dataCrippling complicationsGenotype-phenotype correlationComplete remissionVisceral diseaseVisceral involvementRadiological manifestationsRadiographic findingsPatient population