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. Author manuscript; available in PMC: 2021 Jun 24.
Published in final edited form as: Mol Genet Metab. 2020 Feb 5;129(4):286–291. doi: 10.1016/j.ymgme.2020.01.009

Table 1.

Clinical and biological features of Gaucher disease patients with MGUS and smoldering myeloma. In patient 2, the second allele was not one of common alleles. Patient was diagnosed by bone marrow examination revealing massive infiltration by Gaucher cells initially and confirmed by demonstration of low acid β -glucosidase activity.

Patient (baseline) Genotype Age at GD diagnosis Chitotriosidase (nmol/hr/ml) GlcSph in serum (ng/ml) Hb (gm/dl) Platelets (x1000 u/L) Liver (x normal) Spleen (x normal) Age diagnosis of MG Treatment Status Start (Age) for Eliglustat 84 mg BID
(NR: <78.5) (NR: 2–5)
Pt1 N370S/L444P 12 10055.8 498.9 15.1 114 1.19 5.65 33 Naïve 34
                       
Pt2 N370S/? 25 2607.1 139 13.8 85 0.95 7.46 56 On ERT 57