The ratio of posterior wall thickness to the minimum voltage of QRS complexes in limb leads and several parameters derived from electrocardiography could independently predict ATTR-CM. The ratio of ...

Between 21.4% and 57.8% of patients from a real-world ATTR-CM cohort would have been eligible to take part in clinical trials testing disease-modifying therapies. Inclusion and exclusion criteria used ...

Mother’s Day can be bittersweet when you have a child with a rare disease such as Alagille syndrome (ALGS). Once my son was diagnosed with ALGS, we got the news his liver disease was severe and he ...

In patients with alpha-1 antitrypsin deficiency (AATD), the deficiency of AAT may possibly lead to other comorbidities and pain.

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 ...

The devices are available for patients aged 17 years and older at no extra cost and can be used after receiving training from a healthcare professional. Two new medical devices that will facilitate ...

Awareness of the key symptoms of NF1 can help in early diagnosis. A young male patient was diagnosed with neurofibromatosis type 1 (NF1) after undergoing detailed clinical investigations, according to ...

I know how hard it is to find a good hematologist these days, especially one that’s very familiar with immune thrombocytopenia (ITP).

Test Your Knowledge About Eteplirsen for the Treatment of DMD Test Your Knowledge About the Treatment of DMD Test Your Knowledge About the Epidemiology of DMD Test ...

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 ...

Immunohistochemistry can identify concomitant SM in acute myeloid leukemia, leading to better risk stratification and management. The most common forms of AML in pediatric patients are those ...

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 ...