Anti-transferrin receptor (TfR) antibody-coupled acid-alpha-glucosidase (GAA) led to robust glycogen clearance and reduced neuroinflammation in the central nervous system of a mouse model of Pompe ...

Relatives who underwent screening were diagnosed and began treatment significantly earlier than the proband by more than a decade. Systematic family screening through genetic testing plays a critical ...

As glucose levels increased, sepsis-related mortality also increased: 0.9% in the euglycemic group, 3.5% in the mild hyperglycemia group, and 19.3% in the overt hyperglycemia group. Hyperglycemia is a ...

Intercept Pharmaceuticals, the developer of the PBC drug, suggested that the company's view on the drug's benefit and risk profile differed from that of the US Food and Drug Administration.

Results support incorporating discussions of adverse events alongside efficacy in shared treatment decision-making. Progression-free survival (PFS) and the impact of adverse events (AEs) on quality of ...

The patient was diagnosed with primary diffuse large B-cell lymphoma (DLBCL) of the optic nerve based on histopathologic analysis of biopsy. Researchers from Poland reported the case of a patient with ...

Patients with AATD had a 1.6-fold higher risk of any type of middle ear surgery, even after adjusting for age, sex, COPD, and liver cirrhosis. Patients with alpha-1 antitrypsin deficiency (AATD) are ...

The highest risks were observed for bladder cancer, leukemia, nonmelanoma skin cancer, and kidney cancer. Patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) have a ...

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 ...

Seladelpar treatment was significantly associated with an increased normalization in the levels of alkaline phosphatase, a biomarker of cholestasis, in patients with primary biliary cholangitis (PBC).

Sickle cell disease (SCD) is an autosomal recessive disease and the most common genetic disease in the United States, predominantly affecting African Americans at a rate of approximately 1 in 500. One ...

Decreased nailfold capillary density, exertional dyspnea, and exertional palpitations were significant predictors of exercise pulmonary hypertension. Exercise pulmonary hypertension (PH) was ...