The coadministration of D156844 and AR42 leads to an additive improvement in survival in a model of spinal muscular atrophy (SMA), a study found.

Surgery for patients with achondroplasia should involve careful preoperative preparation and the use of specialized positioning equipment.

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

Serum transthyretin levels appear to correlate with worse prognosis 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 ...

ATTR-CM results from the deposition of amyloid fibrils formed by misfolded TTR proteins in the myocardium. These deposits disrupt cardiac structure and function, however, the early cellular mechanisms ...

The presence of intracutaneous amyloid deposition in asymptomatic TTR mutation carriers could be a predictive of ATTR-CM progression.

A new set of consensus-based statements (CSs) on appropriate myelofibrosis (MF) management for the Asia-Pacific (APAC) region.

A multimodal approach combining vosoritide and limb lengthening led to gains in stature, gait, and emotional well-being in achondroplasia.

Psoriasis, including GPP, continues to place a disproportionate burden on high-SDI regions despite stable age-standardized rates.

Kidney transplantation outcomes in AAV mirror controls in the short term but diverge in long-term graft and patient survival.

Results of the ApproaCH trial showed that navepegritide improved AGV over placebo in pediatric patients with achondroplasia.