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 ResearchMeSH KeywordsChemokines, CCEnzyme Replacement TherapyEnzyme TherapyFemaleGaucher DiseaseGenotypeGlucosylceramidaseHexosaminidasesHumansMacrophagesMalePhenotypePsychosineRecombinant ProteinsSpectrometry, Mass, Electrospray Ionization