Patients with Fabry disease appear to have a higher incidence of renal cell carcinoma than the general population, according to a recently published study in Molecular Genetics and Metabolism. “The ...

Adult patients with Fabry disease have a lower lean mass compared to healthy people, according to a new study published in the Journal of Rare Diseases. The accumulation of lyso-Gb3 is also correlated ...

The presentation of pain is diverse among patients with Fabry disease, according to a new study published in the Orphanet Journal of Rare Diseases. The study also found that, contrary to general ...

Neurodevelopmental and mental disorders may be common in boys and adults with Duchenne muscular dystrophy (DMD), according to a study published in the Archives of Disease in Childhood. Over a third of ...

Gamunex ® -C (immune globulin injection [human]) is a specific intravenous immunoglobulin (IVIg) indicated for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) in adults to ...

Updated guidelines for managing patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) from the British Society for Rheumatology (BSR) were published recently in ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews pediatric neurologist Sithara Ramdas, MD, of Oxford Children’s Hospital in England, on neonatal and juvenile myasthenia gravis.

Physical activity before or during pregnancy was not associated with negative maternal/neonatal outcomes; however, physical activity was not statistically significantly associated with positive ...

Elastase-inhibitory activity (EIA) is associated with chronic obstructive pulmonary disease (COPD) in patients with alpha-1 antitrypsin deficiency (AATD), according to a study published in PLOS One.

A patient with KIT-C -negative systemic mastocytosis (SM) initially presented with severe anemia alongside intraosseous-intramuscular hemorrhage in a case report recently published in Cureus. Atypical ...

In patients with the granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA) subtypes of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) who have kidney ...

Which of the statements below about the differential diagnosis of immunoglobulin G4-related disease (IgG4-RD) are correct? Select one of the options for each question, then submit your answers to see ...