Results 201 to 210 of about 41,371 (294)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot   +33 more
wiley   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein   +20 more
wiley   +1 more source

Mitochondrial Homeostasis in Pancreatic β Cell Function: Mechanisms and Therapeutic Targets for Diabetes

open access: yesJournal of Diabetes, Volume 18, Issue 5, May 2026.
This review highlights mitochondrial dysfunction as a central driver of pancreatic β cell failure in diabetes, caused by disrupted mitochondrial quality control (MQC), oxidative stress, and impaired organelle communication. Emerging therapies, such as DRAK2 inhibitors and metabolic reprogramming agents, show promise in restoring β cell function by ...
Ruihan Li   +5 more
wiley   +1 more source

Citrate‐Dependent Activation of Acetyl CoA Carboxylase Promotes Renal Lipid Accumulation in a Rat Model of Chronic Kidney Disease

open access: yesActa Physiologica, Volume 242, Issue 5, May 2026.
ABSTRACT Background Abnormal accumulation of lipids within the kidney contributes to the progression of chronic kidney disease, but the underlying metabolic mechanisms remain unclear. Citrate is a central metabolite in cellular energy regulation and is frequently elevated in advanced kidney disease, yet its impact on renal lipid metabolism has not been
Marta Sanz‐Gómez   +8 more
wiley   +1 more source

Ceramide-based machine learning models for the diagnosis of unstable angina: a prospective multicenter study. [PDF]

open access: yesEur J Med Res
Xie Z   +12 more
europepmc   +1 more source

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