Demographic data and baseline characteristics for the 26 study patients
| Parameter . | Value . |
|---|---|
| Sex, n (%) | |
| Female | 16 (62) |
| Male | 10 (38) |
| Ethnicity, n (%) | |
| Ashkenazi Jewish | 7 (27) |
| Non-Jewish white | 16 (62) |
| Other | 3 (12) |
| Age, y | |
| Mean (SD) | 34 (13) |
| Median | 31 |
| Minimum, maximum | 18, 60 |
| Acid β-glucosidase,* nmol/h/mg | |
| Mean (SD) | 0.47 (0.77) |
| Median | 0.22 |
| Minimum, maximum | 0, 3.79 |
| Gaucher genotype, n (%) | |
| N370S/N370S | 3 (12) |
| N370S/ L444P | 8 (31) |
| N370S/ other | 11 (42) |
| L444P/ other | 3 (12) |
| Other | 1 (4) |
| Hemoglobin level, g/dL | |
| Mean (SD) | 11.1 (1.7) |
| Median | 11.4 |
| Minimum, maximum | 8.1, 14.6 |
| Platelet count, n/mm3 | |
| Mean (SD) | 66 442 (20 118) |
| Median | 59 500 |
| Minimum, maximum | 39 000, 105 500 |
| Spleen volume, MN | |
| Mean (SD) | 20.0 (12.8) |
| Median | 14.6 |
| Minimum, maximum | 8.2, 59.7 |
| Liver volume, MN | |
| Mean (SD) | 1.8 (0.6) |
| Median | 1.7 |
| Minimum, maximum | 0.8, 3.9 |
| Chitotriosidase,†nmol/h/mL (n = 24) | |
| Mean (SD) | 9168 (5395) |
| Median | 8263 |
| Minimum, maximum | 1962, 23 759 |
| Parameter . | Value . |
|---|---|
| Sex, n (%) | |
| Female | 16 (62) |
| Male | 10 (38) |
| Ethnicity, n (%) | |
| Ashkenazi Jewish | 7 (27) |
| Non-Jewish white | 16 (62) |
| Other | 3 (12) |
| Age, y | |
| Mean (SD) | 34 (13) |
| Median | 31 |
| Minimum, maximum | 18, 60 |
| Acid β-glucosidase,* nmol/h/mg | |
| Mean (SD) | 0.47 (0.77) |
| Median | 0.22 |
| Minimum, maximum | 0, 3.79 |
| Gaucher genotype, n (%) | |
| N370S/N370S | 3 (12) |
| N370S/ L444P | 8 (31) |
| N370S/ other | 11 (42) |
| L444P/ other | 3 (12) |
| Other | 1 (4) |
| Hemoglobin level, g/dL | |
| Mean (SD) | 11.1 (1.7) |
| Median | 11.4 |
| Minimum, maximum | 8.1, 14.6 |
| Platelet count, n/mm3 | |
| Mean (SD) | 66 442 (20 118) |
| Median | 59 500 |
| Minimum, maximum | 39 000, 105 500 |
| Spleen volume, MN | |
| Mean (SD) | 20.0 (12.8) |
| Median | 14.6 |
| Minimum, maximum | 8.2, 59.7 |
| Liver volume, MN | |
| Mean (SD) | 1.8 (0.6) |
| Median | 1.7 |
| Minimum, maximum | 0.8, 3.9 |
| Chitotriosidase,†nmol/h/mL (n = 24) | |
| Mean (SD) | 9168 (5395) |
| Median | 8263 |
| Minimum, maximum | 1962, 23 759 |