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

Autoimmune neonatal thrombocytopenia may be the first clinical indication of undiagnosed maternal systemic lupus erythematosus.

Nipocalimab is a fully human, IgG1, high-affinity monoclonal antibody that blocks placental IgG transfer and reduces levels of circulating maternal IgG.

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

Human urine-derived renal epithelial cells replicate key structural and molecular markers of Fabry disease, a study found.

Patisiran was associated with a moderate improvement in cardiac symptoms in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), a study found.

Patients with neuromyelitis optica spectrum disorder (NMOSD) have a substantial risk of permanent disability even if they are treated with biologics, according to a new study published in the journal ...

Gaucher disease is caused by a mutation in the GBA1 gene, which encodes the enzyme lysosomal acid glucosylceramidase. This enzyme breaks down glucocerebroside to form glucose and ceramide within ...

Older adults with CLL had significantly longer overall survival when treated with novel agents vs traditional therapies.

New research shows that B cells were more active in hemophilia A, whereas T helper cells were more prevalent and functional in hemophilia B with inhibitors.

Models of clinical score trajectories were developed using natural history data from patients with HD and tested against placebo response.

A patient with DADS deteriorated and presented with CIDP-like symptoms after treatment with rituximab, according to case report.