The D38A variant was the most frequent followed by the M13dup variant. Researchers identified 2 unique variants in the transthyretin (TTR) gene that are predominant among Korean patients with ...
Histopathologic examination of a skin biopsy showed no features of psoriasis, suggesting hypocalcemia-related pustulosis after excluding drug-induced and inflammatory etiologies. Timely identification ...
Given the results, the investigation of intranasal carbetocin in PWS has been halted. Intranasal carbetocin did not demonstrate clinical benefit for hyperphagia in patients with Prader-Willi syndrome ...
Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...
Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...
In this episode of the Rare Care podcast, Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kfir Oved, PhD, about the latest Israeli research on myasthenia gravis (MG). Dr. Oved ...
The researchers used the Paris criteria to reach a final diagnosis. A team of international researchers presented the rare case of a male patient with autoimmune hepatitis-primary biliary cholangitis ...
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 Stride Velocity 95th Centile (SV95C) showed sensitivity to a decline in the ability to walk over short intervals in patients with Duchenne muscular dystrophy (DMD), according to a new study ...
US and European regulators could approve up to 17 gene therapies this year, with a top official at the US Food and Drug Administration (FDA) predicting that 2024 will be a “breakout year” in ...
Obeticholic acid, seladelpar, and elafibranor all significantly increased the biochemical response rate. Elafibranor seems to be slightly more effective than seladelpar as a second-line therapy in ...
New research indicates that obinutuzumab is a potentially effective and cost-effective treatment for patients with rituximab-resistant AAV. Obinutuzumab therapy demonstrated immunological superiority ...
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