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
2016
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2016, 120: 47-56. PMID: 28040394, DOI: 10.1016/j.ymgme.2016.12.001.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyInternational Collaborative Gaucher Group Gaucher RegistryGD3 patientsGaucher RegistryPrimary central nervous system involvementImiglucerase enzyme replacement therapyCentral nervous system involvementGaucher diseaseSingle-center seriesGrowth outcomesNervous system involvementGaucher disease type 3Height z-scoreNumber of patientsLife-prolonging benefitsBroad phenotypic spectrumImiglucerase treatmentVisceral diseaseHemoglobin levelsPlatelet countReplacement therapySevere anemiaVisceral manifestationsSpleen volumeSystem involvement