2020
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. Molecular Genetics And Metabolism 2020, 131: 116-123. PMID: 32616389, DOI: 10.1016/j.ymgme.2020.06.008.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyDisease burdenLipid profilePrevalent clinical featuresRespiratory-related complicationsAtherogenic lipid profileAbnormal lipid profileProgressive lung diseaseLung diffusion capacityEnzyme replacement therapyRare lysosomal storage disorderDiverse disease spectrumDegree of abnormalityNiemann-Pick diseaseLysosomal storage disorderLung functionClinical featuresClinical parametersReplacement therapyChronic formClinical burdenLung diseaseNeurovisceral diseaseSpleen volumeLiver fibrosis
2018
Hepatocellular carcinoma in Gaucher disease: an international case series
Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM. Hepatocellular carcinoma in Gaucher disease: an international case series. Journal Of Inherited Metabolic Disease 2018, 41: 819-827. PMID: 29423829, PMCID: PMC6133179, DOI: 10.1007/s10545-018-0142-y.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaCase seriesGD patientsIron overloadChronic hepatitis C infectionGaucher diseaseDevelopment of HCCLiver-specific complicationsHepatitis C infectionInternational case seriesDifferent referral centersMain risk factorsType 1 patientsGD type 1 patientsGD pathogenesisC infectionPrior splenectomyReferral centerLiver cirrhosisHistopathological examinationTransferrin saturationHCC riskLiver fibrosisRisk factorsHCC development