This is the first report from SveATTR— a longitudinal Swedish web-based registry open for TTR variant carriers and patients with ATTR amyloidosis. The study summarizes 60 years of data collected as ...

The chronic use of a TGF-β-targeting phosphorodiamidate morpholino oligomer (PMO) and dystrophin exon-skipping PMO reduced muscle fibrosis and loss, restored dystrophin expression in skeletal and ...

Feature importance analysis using Shapley additive explanations values identified right atrial (RA) and PA volumes as the most influential features for the new model. A novel, fully automated random ...

The average telomere loss in patients with SSc was approximately 223 base pairs per year, compared with 30-60 pairs per year in normal aging. Shortened peripheral blood leukocyte telomere length ...

The consequences of cystic fibrosis (CF) are extensive and affect almost every organ system. The clinical picture is broad and may present with acute or chronic manifestations. Gastrointestinal and ...

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 ...

Eventually, I will run into a doctor who has never heard of Pompe and wants all the information about it from me. Rare Disease Advisor, a trusted source of medical news and feature content for ...

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 ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Albert Faro, MD, vice president for clinical affairs at the Cystic Fibrosis Foundation (CFF). Dr. Faro speaks about COVID-19’s ...

Bone marrow flow cytometry is one of the most efficient ways to diagnose or exclude PNH. A patient with a history of cortical vein thrombosis with new-onset pancytopenia was diagnosed with paroxysmal ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Herwig Lange, MD, a neurologist who has been researching Huntington disease (HD) since 1969. Dr. Lange, a proponent of nondrug ...