Results 181 to 190 of about 43,342 (295)

Hypomorphic ATP11c is a novel regulator of decreased efficacy of transfused red blood cells in humans and mice

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Chronic red blood cell (RBC) transfusion sustains patients with diverse hematologic disorders, but repeated transfusion leads to iron overload and alloimmunization. Reducing transfusion burden requires identifying donor units that circulate more effectively after storage, yet determinants of this variability remain incompletely defined.
James C. Zimring, Ariel M. Hay, Monika Dzieciatkowska, Daniel Stephenson, Zachary B. Haiman, Steven Kleinman, Philip J. Norris, Michael P. Busch, Nareg Roubinian, Elisa Fermo, Paola Bianchi, Gregory R. Keele, Grier P. Page, Angelo D'Alessandro   +13 more
wiley   +1 more source

Free and Total Carnitine in Infant and Adult/Pediatric Nutritional Formulas by Liquid Chromatography/Tandem Mass Spectrometry: First Action 2012.17 [PDF]

, 2013
Dustin E Starkey, James E Denison, Charles T Seipelt, Wesley A Jacobs, Dawn Dowell   +4 more
openalex   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses, Apolline Imbard, Clément Pontoizeau, Anaïs Brassier, Jean‐Baptiste Arnoux, Juliette Bouchereau, Claire‐Marine Bérat, Murielle Assoun, Claire Belloche, Sabine Dewulf, Sandrine Dubois, Bénédicte Samba, Aude Servais, Myriam Dao, Edouard Le Guillou, Amélie de Colnet, Chris Ottolenghi, Pascale de Lonlay, Jean‐François Benoist, Manuel Schiff   +19 more
wiley   +1 more source

Plasma and Urinary TMAO and Methylamine Responses to Meat and Egg Ingestion: Links to Gut Microbiota Composition in Subjects With and Without Metabolic Syndrome. [PDF]

Nutrients
Hefni ME, Esberg A, Hellström P, Johansson I, Witthöft CM.   +4 more
europepmc   +1 more source

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

Therapeutic targets of L-carnitine against polycystic ovary syndrome and the underlying signaling mechanisms. [PDF]

Medicine (Baltimore)
Zhang Y, Ma H, Sun P, Liu K, Wang J, Zhao W.   +5 more
europepmc   +1 more source

Biological Variation of Free and Total Carnitine in Serum of Healthy Subjects [PDF]

, 1997
Roman Alberty, Dáša Albertyová
openalex   +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

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

Mechanical Stimulation Induces Yap Mediated OCTN2 Transcription to Enhance Carnitine Metabolism in Sarcopenia. [PDF]

J Cachexia Sarcopenia Muscle
Lu Y, Bai Y, Li W, Zhou Z, Lai H, Hu X, Yang T, Wang C, Chen Y, Gan K, Li K, Ma H, Shen L, He D.   +13 more
europepmc   +1 more source