2023
Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades
El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.Peer-Reviewed Original ResearchGD type 3Enzyme replacement therapyYears of ERTLarge single-center studySingle-center studyThird of patientsOverall survival ratePediatric hematology clinicLong-term outcomesLarge cohort studyBulbar symptomsGD3 patientsHepatopulmonary syndromeCohort studyEgyptian patientsLiver cirrhosisHematology clinicNeurological assessmentSevere thrombocytopeniaReplacement therapySevere splenomegalyFamily historyGenotype/phenotype studiesSevere hepatomegalyPatients
2020
Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades
El-Beshlawy A, Eid K, AbdelSalam A, Mohamed F, Selim Y, Gebril N, Fateen E, Mistry P. Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades. Blood 2020, 136: 21-22. DOI: 10.1182/blood-2020-141776.Peer-Reviewed Original ResearchEnzyme replacement therapyOverall survivalPediatric hematology clinicGaucher diseaseHepatopulmonary syndromeCohort studyNeurological findingsGBA mutationsHigh-dose enzyme replacement therapyLarge single-centre cohort studySingle-center cohort studyType 1 Gaucher diseaseCommon neurological findingsGaucher cell infiltrationCenter cohort studySingle-center cohortBaseline disease severityBone marrow examinationDate of diagnosisGaucher disease type 3Kaplan-Meier analysisLong-term outcomesProgressive neurological diseaseEarly-onset diseaseLarge cohort study
2011
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy
Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy. Journal Of Inherited Metabolic Disease 2011, 34: 643-650. PMID: 21445609, PMCID: PMC3782382, DOI: 10.1007/s10545-011-9313-9.Peer-Reviewed Original ResearchConceptsPulmonary arterial hypertensionEnzyme replacement therapySeverity Score IndexHepatopulmonary syndromeLong-term outcomesGBA1 genotypeAdjuvant therapyPreponderance of femalesImiglucerase enzyme replacement therapyType 1 Gaucher diseaseDiagnosis of GD1Pulmonary vascular complicationsPulmonary vascular diseaseMedian age 12Spleen statusArterial hypertensionVascular complicationsPatient characteristicsConsecutive patientsInitial presentationMedian ageReplacement therapyClinical spectrumVascular diseasePatientsPulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes
Lo S, Liu J, Pastores G, Knowles J, Boxer M, Korson M, Alec K, Mistry P. Pulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes. Molecular Genetics And Metabolism 2011, 102: s25-s26. DOI: 10.1016/j.ymgme.2010.11.086.Peer-Reviewed Original Research
1998
Outcome of orthotopic liver transplantation in patients with haemophilia
Gordon FH, Mistry PK, Sabin CA, Lee CA. Outcome of orthotopic liver transplantation in patients with haemophilia. Gut 1998, 42: 744. PMID: 9659174, PMCID: PMC1727096, DOI: 10.1136/gut.42.5.744.Peer-Reviewed Original ResearchConceptsOrthotopic liver transplantationHepatitis C cirrhosisHuman immunodeficiency virusLiver transplantationC cirrhosisViral hepatitisHepatocellular carcinomaHIV-negative recipientsRecurrent viral hepatitisChronic viral hepatitisHIV-positive recipientsKaplan-Meier analysisLong-term outcomesLong-term cureMedical database searchHaemophilic menPositive recipientsHepatitis BBiliary atresiaCommon indicationDisease recurrenceHIV infectionTransplant centersMedian timeNegative recipients