Patients with Wilson disease are at risk of osteoporosis and osteopenia, particularly older, male patients and those with skeletal symptoms.

Careful attention to blood sample handling, including maintaining a warm chain, can help identify cold agglutinin disease (CAD).

The suspicion of cardiac amyloidosis is still age-biased among healthcare professionals. In spite of recent educational efforts.

Serum transthyretin levels appear to correlate with worse prognosis in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), a study found.

Researchers have proposed a link between the availability of maternal-fetal medicine (MFM) physicians and decreased rates of maternal mortality.

Two phase 3 clinical trials are recruiting patients with CIDP to evaluate the efficacy of riliprubart treatment.

Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Claire Booth, MBBS, PhD, cofounder of the AGORA Initiative.

Targeted therapies for IgG4-RD provide a potential alternative to glucocorticoids, affording better control of disease along with fewer side effects.

The Stride Velocity 95th Centile (SV95C) showed sensitivity to a decline in the ability to walk over short intervals in patients with DMD, a study found.

The updated 2025 BSR management recommendations for patients with AAV provide systematic and evidence-based recommendations to support UK clinicians in managing AAV across the entire life course.

Early intervention for chronic inflammatory demyelinating polyneuropathy (CIDP) was associated with improved disability scores.

A case of acute lymphoblastic leukemia (ALL) complicated by bullous pemphigoid (BP) presented significant diagnostic and therapeutic challenges, emphasizing the need for prompt identification and ...