All Articles

Evidence evaluation in rare disease guidelines: a methodological perspective

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

Monoclonal gammopathies and their management in Gaucher disease type 1

Reframing cutaneous neurofibromas as a model for extracellular matrix-driven benign tumor biology by R Brown

A communication toolkit for the most impactful symptoms of Fabry disease: co-creation with Fabry disease patients and their treating clinicians in the UK

Biologics reshape the future of lupus care

Gene therapy for inborn errors of immunity: past progress, current status and future directions

Remission and low disease activity in systemic lupus erythematosus

Impact of probucol on xanthoma reduction and its role in cardiovascular event prevention in familial hypercholesterolemia patients

Risk factors for coronary artery disease in familial hypercholesterolemia

How did we move from the initial concept 24 years ago to the current understanding of treating patients with Fabry Disease? A narrative review and personal perspective

From hype to hope: foundational requirements for NF1 gene therapy success

Discriminating dyslipidemias - a South African perspective

Management strategies using biologics in systemic lupus erythematosus

The clinical landscape of cutaneous neurofibromas in neurofibromatosis type 1

Challenges in pediatric familial hypercholesterolemia management: insights from a survey in Shizuoka, Japan

What influences changes in gait spatiotemporal parameters in boys with Duchenne Muscular Dystrophy? Focusing on contractures, muscle strength, and gait deviations

Systemic lupus erythematosus: management strategies