The modified compounds achieved up to a 3.01-fold enhancement in GCase activity and 11.26-fold increase in GAA activity. Specifically designed and synthesized neutral thiourea-type sp 2-iminosugars ...

HDFN incidence in neonates with blood type A or B and raised TcB levels was 6.17%. Transcutaneous bilirubin (TcB) is an effective screening tool for hyperbilirubinemia and hemolytic disease of the ...

After 1 year, participants with normal sleep patterns showed superior quality of life, fewer behavioral problems, less mental fatigue, and more physical activity. Patients with Huntington disease (HD) ...

Secondary CNS involvement in CLL/SLL was rare at 1.1% to 1.7% across 15 years. Secondary central nervous system (CNS) involvement in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) ...

Coramitug is well tolerated and leads to a statistically significant reduction in N-terminal pro-brain type natriuretic peptide (NT-proBNP)—a marker of disease progression in transthyretin-mediated ...

GCLC-mediated suppression of ferroptosis contributes to lenvatinib resistance in HCC organoids and xenografts. Functional genomic screening revealed that hepatocellular carcinoma (HCC) survival ...

Whole-genome resequencing used to assess ATP7B genotypes found a higher frequency of impaired finger tapping in patients carrying the p.P992L mutation. A variety of sociodemographic factors were found ...

Treatment discontinuation rates were similar to those in the placebo group, and no notable safety imbalances were observed for serious adverse events. Nerandomilast, an investigational oral ...

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 ...

Speakers at the panel “Unlocking the future: the convergence of AI, personalized medicine, and genomics” at the World Orphan Drug Congress USA 2025 (Photo by Riya Ajmera) Artificial intelligence could ...

Newborn screening remains an unevenly accessible resource. The legal and regulatory frameworks governing retention of dried blood spots used in newborn screening vary significantly across states. When ...

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 ...