Results 71 to 80 of about 22,061 (226)

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

open access: yesEpileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca   +10 more
wiley   +1 more source

Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

open access: yes, 2002
Deficiency of the E1α-subunit of the pyruvate dehydrogenase (PDH) complex is an X-linked inborn error of metabolism and one of the major causes of lactic acidosis in children.
Garry K. Brown   +4 more
core   +1 more source

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

open access: yesEpilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer   +12 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Cuproptosis‐Related Genes in Immune Infiltration and Diagnosis in Hepatitis B Virus‐Related Acute Liver Failure

open access: yesExploration, EarlyView.
The role of cuproptosis in HBV‐ALF was explored via bioinformatics and liver biopsy tissues. There are some crosstalks among cuproptosis, immune infiltration, and ferroptosis (The figure was created by Bio Render). ABSTRACT Hepatitis B virus (HBV) infection poses a significant challenge to global health, particularly in developing countries such as ...
Jingwen Deng   +10 more
wiley   +1 more source

Structural basis for the dysfunctioning of human 2-oxo acid dehydrogenase complexes

open access: yes, 2002
2-oxo acid dehydrogenase complexes are a ubiquitous family of multienzyme systems that catalyse the oxidative decarboxylation of various 2-oxo acid substrates.
Kok, A., de, Hengeveld, A.F.
core   +1 more source

Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers

open access: yes
Background and purpose: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X-linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1-related disease to (i) describe the ...
Aronsson, Johan,   +10 more
core   +1 more source

Precursor uptake assays and metabolic analyses in isolated tomato fruit chromoplasts [PDF]

open access: yes, 2012
Background Carotenoids are the most widespread group of pigments found in nature. In addition to their role in the physiology of the plant, carotenoids also have nutritional relevance as their incorporation in the human diet provides health benefits.
Pateraki, Irini   +25 more
core   +1 more source

Smart Nanodelivery Systems for Immunometabolic Modulation in Osteoarthritis

open access: yesExploration, EarlyView.
Smart nanodelivery systems deliver therapeutic payloads across the cartilage matrix to ensure their sustained accumulation within chondrocytes at sites of injury. By targeting specific molecular targets and signaling pathways, these platforms modulate the pathological synovium‐cartilage axis to restore immunometabolic homeostasis and drive tissue ...
Qirui Zhao   +20 more
wiley   +1 more source

Monitoring and Mitigation Strategies for Hazardous Compounds in Chinese Rice Wine (Huangjiu): A Comprehensive Review

open access: yesFood Safety and Health, EarlyView.
This review elucidates the formation pathways and detection technologies for ethyl carbamate, biogenic amines, and higher alcohols in Huangjiu. It concludes that integrated control frameworks are essential to decouple safety risks from the metabolic processes responsible for flavor development.
Lulu Liu   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy