2011
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 2011, 118: e118-e127. PMID: 21868580, PMCID: PMC3685900, DOI: 10.1182/blood-2011-05-352971.Peer-Reviewed Original Research
2004
Therapeutic goals in the treatment of Gaucher disease
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A. Therapeutic goals in the treatment of Gaucher disease. Seminars In Hematology 2004, 41: 4-14. PMID: 15468045, DOI: 10.1053/j.seminhematol.2004.07.009.Peer-Reviewed Original ResearchMeSH KeywordsEnzyme TherapyEvidence-Based MedicineGaucher DiseaseHumansPractice Guidelines as TopicQuality of LifeTreatment OutcomeConceptsEnzyme replacement therapyGaucher diseaseTherapeutic responseTherapeutic goalsNon-neuronopathic (type 1) Gaucher diseaseType 1 Gaucher diseaseVariable disease patternGoal of treatmentCommon lysosomal storage disorderEvidence-based consensusExtensive clinical experienceQuality of lifeImplementation of treatmentLysosomal storage disorderPulmonary diseaseReplacement therapyMultisystem conditionIndividualized managementIndividual patientsClinical experienceDisease patternsGrowth retardationDiseaseStorage disorderSkeletal pathology