Abstract:Gaucher disease type III (GD III) is a rare form of GD characterized by neurological involvement and severe systemic disease. The objective of this study was to assess the nutritional status and energy metabolism of patients with GD III. Methods: The basal metabolic rate (BMR, measured by indirect calorimetry) and anthropometric parameters (height, weight, body mass index (BMI), and arm circumference) of three patients with GD III (p.L444P/L444P genotype) were assessed at different time points. The clinical se… Show more
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