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

Conducting a RCT of the Accessercise app among adults with physical disabilities, including achondroplasia, is feasible and acceptable.

Neonatal anthropometric measurements may serve as indicators for the early detection of skeletal dysplasias, including achondroplasia.

In patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), high levels of baseline blood urea nitrogen (BUN) are a risk factor for end-stage kidney disease (ESKD) and/or ...

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 ...

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

The change in extracellular volume is the only predictor of adverse outcome in patients with ATTR-CM treated with tafamidis, a study found.

Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench ...

Once Fabry disease is suspected, the diagnostic approach differs by sex, although genetic testing is required to confirm the diagnosis in all individuals. 1 This distinction exists because some ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

The CSHA Clinical Frailty Scale is a feasible tool for predicting treatment-related toxicity and discontinuation in older adults with CLL.

Therapies for Gaucher disease generally fall into 2 main categories: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Neither ERT nor SRT effectively treats the neurological ...