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 ...

A subgroup of patients with HD with global memory impairments, particularly consolidation deficits, showed more medial temporal lobe atrophy. Patients with Huntington disease (HD) show deficits in ...

Inebilizumab-cdon (Uplizna ®) has received US Food and Drug Administration (FDA) approval for the treatment of adults with generalized myasthenia gravis (MG) with antibodies against the acetylcholine ...

Biochemical response rates were sustained through week 182 in patients with PBC treated with elafibranor, and the proportion of patients with normal alkaline phosphatase levels remained consistent.

Treated participants showed preservation of alveolar epithelial type II progenitor cells, which are essential for lung repair and regeneration. Inhaled LTI-03 has shown the potential to reduce lung ...

The researchers reported that Scheuer stage score increased significantly with histological stage and GLOBE score. The GLOBE score of patients with primary biliary cholangitis (PBC) before treatment ...

The data presented in this study suggest that pathogen reduction technology—INTERCEPT or MIRASOL—does not increase morphologic platelet storage lesion compared with simple storage in platelet additive ...

In terms of glucocorticoid remission, the rituximab cohort achieved better results (52.1%) compared with the intravenous cyclophosphamide group (30.9%). Rituximab was found to be significantly ...

Nikki McIntosh with her sons Miles (right), who has spinal muscular atrophy type 2, and Mason (Photo by Stefanie Zeltner/Joie de Vivre Photography) Nikki McIntosh hopes her new book will provide ...

Emerging therapies such as bezuclastinib and elenestinib show promise in improving disease control with potentially fewer toxicities. Other novel strategies, such as immune-based therapies, are under ...

A baseline bleeding risk of 7.3 bleeds per year was observed without any FIX, and targeting trough FIX levels between 10 and 20 IU/dL reduced bleeds to very low or eliminated them. In people with ...