0000000000358619

AUTHOR

Fatih Süheyl Ezgü

showing 3 related works from this author

P1211 : Efficacy and safety of sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Results of a phase 3 trial

2015

HepatologyBiochemistrySebelipase alfabusiness.industrymedicineLysosomal acid lipase deficiencyPharmacologymedicine.diseasebusinessJournal of Hepatology
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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

2015

BackgroundLysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and severe dyslipidemia. MethodsIn this multicenter, randomized, double-blind, placebo-controlled study involving 66 patients, we evaluated the safety and effectiveness of enzyme-replacement therapy with sebelipase alfa (administered intravenously at a dose of 1 mg per kilogram of body weight every other week); the placebo-controlled phase of the study was 20 weeks long and was followe…

AdultMalemedicine.medical_specialtyCirrhosisAdolescentHDLBiopsy[SDV]Life Sciences [q-bio]Lysosomal acid lipase deficiencyGastroenterologyLDLlaw.inventionYoung Adultchemistry.chemical_compoundDouble-Blind MethodRandomized controlled triallawInternal medicinemedicineHumansAdolescent; Adult; Aged; Alanine Transaminase; Biopsy; Child; Child Preschool; Cholesterol HDL; Cholesterol LDL; Double-Blind Method; Dyslipidemias; Female; Humans; Liver; Male; Middle Aged; Sterol Esterase; Wolman Disease; Young AdultChildPreschoolComputingMilieux_MISCELLANEOUSAgedDyslipidemiasbiologyCholesterolbusiness.industryWolman DiseaseAlanine TransaminaseLipid metabolismGeneral MedicineMiddle AgedSterol Esterasemedicine.disease3. Good healthCholesterolEndocrinologyLiverSebelipase alfachemistryAlanine transaminasebiology.proteinFemalebusinessDyslipidemia
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Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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