All Articles

Potential barriers to reverse cascade screening combined with universal cholesterol screening for paediatric familial hypercholesterolemia: focus on second-degree relatives of a proband

Measurement of Achilles tendon thickness using ultrasonography for diagnosis and risk assessment in patients with familial hypercholesterolemia

Exploring new therapeutics for Duchenne muscular dystrophy and related cardiomyopathy

Rare diseases clinical trials toolbox - public resources and main considerations to set up a clinical trial on medicinal products for humans in Europe

The novel SCD MED ALERT mHealth app: empowering patients with sickle cell disease

Lymphedema and erysipelas in patients with classic Fabry disease: a retrospective case series

The necessity for skeletal muscle contractile assays to assess treatment efficacy in DMD

Organellar crosstalk as a potential therapeutic target for rare neurodegenerative diseases

Long-term impact of corticosteroid therapy on adult height in juvenile myasthenia gravis patients: a retrospective multicenter cohort study

Fabry disease in women: beyond the role of “carriers”

Electroencephalogram (EEG) network-level excitation-inhibition in GRIN2B-related neurodevelopmental disorders: a pilot case-control series

The genotype and phenotype correlation of Prader-Willi syndrome

First, do no harm: the role of preclinical animal models in predicting adverse events in gene therapy clinical trials for Duchenne muscular dystrophy and X-Linked myotubular myopathy

Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review

Special issue on Fabry disease - book 1: editorial

A landscape map of the key global rare disease organizations

The complexity of funding rare disease research: an IRDiRC assessment of the landscape