Symptomatic care of children with non-neuronopathic Gaucher disease.  1. Physical Growth Routinely assess height, weight, growth percentiles, and growth rate in all children with Gaucher disease (GD). Preferably use population-specific […]

Patient-Centered Guidelines for the Laboratory Diagnosis of Gaucher Disease (GD) Type 1 Overview These guidelines provide evidence based recommendations for the timely and accurate laboratory diagnosis of Gaucher disease (GD) […]

Gene therapy then and now: A look back at changes in the field over the past 25 years Abstract Since the launch of Molecular Therapy in 2000, the field of […]

Abstract A systematic review of case reports, case series, and case-control studies was conducted to quantify the diagnostic delay in 84 rare genetic diseases where neuropsychiatric symptoms may be primary or […]

Supportive and Symptomatic Care for Women with Gaucher Disease  Overview Women with Gaucher disease should receive standard Gaucher-specific treatment and monitoring, with additional attention to female reproductive health. Since enzyme […]

Introduction As patients with stable Gaucher disease (GD) age, they may develop cardiovascular risk factors such as hypertension and metabolic syndrome. Lifestyle and dietary interventions are important for reducing these […]

Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to accumulation of Gb3 and progressive kidney, heart, and nervous system damage. ERT (agalsidase […]

Background Inborn errors of metabolism (IEMs) are a large group of rare genetic disorders that usually arise from defects in enzymes or transport proteins, leading to blockages in normal metabolic […]