Gene Therapy for Duchenne Muscular Dystrophy
1. Overview Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by variants in the DMD gene, located on chromosome Xp21. It affects approximately 1 in 6,000 live male […]
Fabry disease cardiomyopathy: A state-of-the-art review
1. Overview Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal […]
The Diagnosis and Therapy of Osteoporosis in Gaucher Disease
Abstract Gaucher disease (GD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase, which leads to the buildup of glucocerebroside lipids in different organs. […]
Fabry Disease: Updated Perspective and Review of Treatment and Therapies
1. Overview of Fabry Disease Fabry disease (FD) is a progressive, multisystemic, X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene. These variants lead to reduced or […]
Fabry Disease: Updated Perspective and Review of Treatment and Therapies
1. Overview of Fabry Disease Fabry disease (FD) is a progressive, multisystemic, X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene. These variants lead to reduced or […]
Global Considerations for Lifelong Management and Therapeutic Development for Phenylketonuria (PKU)
intrduction Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by pathogenic variants in the PAH gene, which encodes phenylalanine hydroxylase (PAH). PAH, together with its cofactor tetrahydrobiopterin (BH4), […]
Switching and Monitoring Best Practice for Gaucher Disease
1. Introduction Patients with Gaucher disease, their caregivers, families, and patient organizations have raised increasing concerns about switching medicines used to treat this rare condition. Several treatments have demonstrated safety […]
Coordination of Care in Gaucher Disease Type I
Coordination of Care in Gaucher Disease Type I 1. Principles of Coordinated Care Care coordination provides a structured approach to managing the complex medical and non-medical needs of patients with […]
Symptomatic care of children with non-neuronopathic Gaucher disease.
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
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) […]
