fig1

Recognizing Gaucher disease in the fifth decade and beyond: a retrospective case study in patients of Ashkenazi Jewish descent

Figure 1. Biomarker values in symptomatic and pre-symptomatic patients. The horizontal dashed line for lyso-Gb1 (A) denotes the upper limit of the normal reference range (≤ 2.05 nmol/L); The horizontal dashed lines for CHITO (4-120 nmol/hr/mL) (B) and platelet count (150-450 × 109/L) (C) denote the lower and upper limits of the normal reference range; The horizontal dashed line for hemoglobin values (D) denotes the ratio as the upper limit of normal (ULN) to account for age- and sex-specific reference ranges. The symptomatic group includes patients who presented with ongoing signs/symptoms and those with a diagnosis of Parkinson’s disease. Lyso-Gb1: Glucosylsphingosine; CHITO: chitotriosidase.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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