2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy
Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy. Journal Of Inherited Metabolic Disease 2010, 33: 769-774. PMID: 20683668, PMCID: PMC3008694, DOI: 10.1007/s10545-010-9175-6.Peer-Reviewed Original ResearchConceptsFocal splenic lesionsEnzyme replacement therapyGD1 patientsReplacement therapySplenic lesionsMacrophage-targeted enzyme replacement therapyPlatelet responseYears of ERTPrevalence of osteonecrosisGaucher disease type IDeterminants of responseType IPoor plateletsAvascular osteonecrosisSuboptimal responseSevere manifestationsSplenic responseIntact spleenClinical significanceSplenic parenchymaPatientsWorse thrombocytopeniaRoutine evaluationSplenomegalyTherapy
2008
36. Dose–response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type I
Grabowski G, Kacena K, Hollak C, Zhang L, Yee J, Mistry P, Zimran A, Charrow J, vom Dahl S. 36. Dose–response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type I. Molecular Genetics And Metabolism 2008, 93: 23. DOI: 10.1016/j.ymgme.2007.10.048.Peer-Reviewed Original Research