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 ...

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 ...

CLL-related immune dysfunction, along with therapy-associated immunosuppression, contributes to impaired tumor surveillance. Patients with chronic lymphocytic leukemia (CLL) are at increased risk for ...

Patients who had a poor outcome had a higher GLOBE score and UK-PBC risk score compared to patients with good outcomes after 1 year of treatment with fenofibrate add-on therapy. The GLOBE and UK-PBC ...

A patient with distal acquired demyelinating symmetric neuropathy (DADS) deteriorated and presented with chronic inflammatory demyelinating polyneuropathy (CIDP)-like symptoms after treatment with ...

Jerry Lewis, one of the most famous comedians of the 20th century, was a tireless advocate for people with muscular dystrophy. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews ...

Relative survival increased from 64% to 66%, overall survival from 54% to 55%, and lymphoma-specific survival from 64% to 66%. The advent of chimeric antigen receptor T-cell (CAR-T) therapy for ...

In CIDP, SOC therapies (immunoglobulins/corticosteroids) are burdensome, have variable efficacy, and significant side-effects. Two phase 3 clinical trials, MOBILIZE ...

Approximately 42% of patients showed evidence of SMN1 to SMN2 conversion, confirmed by the presence of SMN1-specific variants downstream of SMN2. To shed more light on the genetic determinants of SMA ...

Statistical analysis revealed that severe cytopenia and splenomegaly were significant prognostic factors for survival. Cytopenia and splenomegaly appear to be the main drivers for poor prognosis in ...

The most frequently mutated genes were associated with epigenetic regulatory mechanisms, namely TET2, ASXL1, and DNMT3A. Next-generation sequencing (NGS) identified 14 gene mutations with diagnostic ...

Statistical analysis revealed a strong relationship between WIS and PBC-40 and a moderate to strong relationship with the Beck Depression Inventory-II score. The primary biliary cholangitis (PBC)-40 ...