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 […]
