Results 291 to 300 of about 162,227 (374)

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Fabian Preisner, Sven F. Garbade, Inga Harting, Saskia B. Wortmann, Chris Mühlhausen, Sabine Heiland, Martin Bendszus, Stefan Kölker, Nikolas Boy   +8 more
wiley   +1 more source

The vital impact of acetyl-L-carnitine and selenium-fortified <i>Saccharomyces cerevisiae</i> on biochemical parameters in Awassi ewes. [PDF]

Open Vet J
Abdulazeez ST, Alsaadi SAA.
europepmc   +1 more source

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein‐Deficient Mice and Human Fibroblasts

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Mitochondrial trifunctional protein (TFP) deficiency is an inherited disorder of long‐chain fatty acid β‐oxidation (FAO). TFP is a heteromeric enzyme composed of two α and two β‐subunits. Despite early detection and dietary treatment, TFP deficiency patients often develop hypoglycemia, rhabdomyolysis, cardiomyopathy, and peripheral neuropathy.
Eduardo Vieira Neto, Meicheng Wang, Austin J. Szuminsky, Lethicia Ferraro, Shakuntala Basu, Xuejun Zhao, Anuradha Karunanidhi, Yudong Wang, Jerry Vockley   +8 more
wiley   +1 more source

L-carnitine as a novel approach for pain and inflammation relief in rheumatoid arthritis. [PDF]

Inflammopharmacology
Eldisouky AA, Hegazy SK, Abd Elghany SE.
europepmc   +1 more source

The role of carnitine palmitoyl transferase 2 in the progression of salt-sensitive hypertension [PDF]

Lashodya V. Dissanayake, Bruce A. Smith, Adrian Zietara, Vladislav Levchenko, Melissa Lowe, Olha Kravtsova, A. M. James Shapiro, Gunjan Upadhyay, Ganesh V. Halade, Aron M. Geurts, Oleg Palygin, Alexander Staruschenko   +11 more
openalex   +1 more source

Energy Metabolism Under Stress: Late‐Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
Cardiac bioenergetic and metabolic perturbations in late‐stage Leigh syndrome. Whole‐body NDUFS4 loss severely impairs cardiac complex I activity and respiration, shifting reliance to complex II and reducing glycolytic, TCA, and amino acid‐derived energy‐generating substrates in the heart.
Karin Terburgh, Nastassja Sweeney, Roan Louw   +2 more
wiley   +1 more source

Altered Carnitine Metabolism in Ischemic and Non-Ischemic Cardiomyopathy: A Comparative Metabolomics Study Using LC-MS/MS. [PDF]

Metabolites
Behram Kandemir Y, Güntekin Ü, Tosun V, Koyuncu İ, Yüksekdağ Ö.   +4 more
europepmc   +1 more source

Carnitine levels in colon, muscle and serum of rats with experimental colitis

, 2000
Giuseppe D’Argenio, V. Cosenza, Nicola Delia Valle, Orsolina Petillo, Sabrina Margarucci, Menotti Calvani, Luigi Mosconi, G. Mazzacca, Gianfranco Peluso   +8 more
openalex   +1 more source

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Molly M. Crenshaw, Yasmeen Midgette, Shruthi Mohan, Ruhan Wei, Mariele Anneling, Monika Williams, Milap Patel, Benjamin T. Cocanougher, Sarah P. Young, Dmitriy Niyazov, Areeg El‐Gharbawy, Ashlee R. Stiles   +11 more
wiley   +1 more source

Dietary Fatty Acids Modulate Gut Microbiota-Derived Trimethylamine-N-Oxide: Potential Mechanisms and Future Perspective. [PDF]

Nutrients
Kilic E, Basaran P.
europepmc   +1 more source