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 diseasePatients
2010
Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease
Lo SM, McNamara J, Seashore MR, Mistry PK. Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 429-433. PMID: 20882348, PMCID: PMC3053412, DOI: 10.1007/s10545-010-9214-3.Peer-Reviewed Original ResearchMeSH Keywords1-DeoxynojirimycinAcid PhosphataseBiomarkersCarrier ProteinsCells, CulturedCholesterol EstersDiagnostic ErrorsDNA Mutational AnalysisEnzyme InhibitorsEnzyme Replacement TherapyEsterificationFemaleGaucher DiseaseGenetic Predisposition to DiseaseGlucosylceramidaseGlucosyltransferasesHepatomegalyHeterozygoteHexosaminidasesHumansInfantIntracellular Signaling Peptides and ProteinsIsoenzymesMembrane GlycoproteinsMutationNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CPhenotypePredictive Value of TestsSplenomegalyTartrate-Resistant Acid PhosphataseUnnecessary ProceduresConceptsNiemann-Pick disease type CAcid β-glucosidase activityDisease type CGaucher diseaseSerum chitotriosidaseCholesterol esterificationDiagnosis of NPCEnzyme replacement therapySkin fibroblastsTartrate-resistant acid phosphataseType CFalse-positive testingCultured skin fibroblastsVisceral diseasePediatric patientsPrompt diagnosisDiagnostic delayInitial presentationInitial diagnosisReplacement therapyEffective therapyNeurological abnormalitiesCorrect diagnosisPositive testingHigh index