Results 81 to 90 of about 10,947 (199)

Association of Whole Blood Amino Acid and Acylcarnitine Metabolome with Anthropometry and IGF-I Serum Levels in Healthy Children and Adolescents in Germany

Metabolites
Background: Physiological changes of blood amino acids and acylcarnitines during healthy child development are poorly studied. The LIFE (Leipziger Forschungszentrum für Zivilisationserkrankungen) Child study offers a platform with a large cohort of ...
Ricky Jensch, Ronny Baber, Antje Körner, Wieland Kiess, Uta Ceglarek, Antje Garten, Mandy Vogel   +6 more
doaj   +1 more source

Increased C3 Acylcarnitine Concentration in a Newborn [PDF]

Clinical Chemistry, 2016
A 2-week-old (term) female was brought to the emergency room following newborn screening results showing increased C3 acylcarnitine, (16.7 μmol/L; reference interval,
openaire   +2 more sources

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes, Maria Pilar Mendez Perez, Marta Torres Diaz, Maria Eugenia Sanchez Gutierrez, Enrique Galán Gómez   +4 more
wiley   +1 more source

Integrated Immune, Epithelial and Lipid Pathways in NSAID‐Exacerbated Respiratory Disease

Clinical and Translational Allergy, Volume 16, Issue 8, August 2026.
ABSTRACT NSAID‐exacerbated respiratory disease (N‐ERD) is a chronic inflammatory disorder characterized by asthma, chronic rhinosinusitis with nasal polyps and respiratory reactions to cyclooxygenase‐1 inhibiting nonsteroidal anti‐inflammatory drugs (NSAID).
Piotr Szatkowski, Lucyna Mastalerz
wiley   +1 more source

Metabolomic profiles of stony coral species from the Dry Tortugas National Park display inter- and intraspecies variation

mSystems
Coral reefs are experiencing unprecedented loss in coral cover due to increased incidence of disease and bleaching events. Thus, understanding mechanisms of disease susceptibility and resilience, which vary by species, is important.
Jessica M. Deutsch, Alyssa M. Demko, Olakunle A. Jaiyesimi, Gabriel Foster, Adelaide Kindler, Kelly A. Pitts, Tessa Vekich, Gareth J. Williams, Brian K. Walker, Valerie J. Paul, Neha Garg   +10 more
doaj   +1 more source

Estrogen Receptor Beta Activation Coordinates Liver Lipid Remodeling and Metabolic Fluxes, Preventing Lipotoxicity

Comprehensive Physiology, Volume 16, Issue 4, August 2026.
ERβ activation restores glucose and lipid homeostasis by remodeling the hepatic lipidome. Mechanistically, it promotes complete fatty acid oxidation and decreases Acetyl‐CoA levels, leading to reduced ketogenesis and lipotoxicity, as demonstrated through in vivo and in vitro approaches.
Debora Santos Rocha, Eloisa Vilas‐Boas, Camille C. Caldeira da Silva, Everton L. Vogt, Marcos Yoshinaga, Mariana Pacheco Teixeira de Carvalho, Maiara I. C. Queiroz, Tiago Eugênio Oliveira da Silva, Sayuri Miyamoto, Alicia J. Kowaltowski   +9 more
wiley   +1 more source

The influence of hypertensive disorders in pregnancy on neonatal amino acid and acylcarnitine levels

Frontiers in Nutrition
Background/objectivesHypertensive disorders in pregnancy (HDP) are associated with an increased risk of neonatal complications; however, their effects on neonatal metabolism remain inadequately understood.
Shiyi Xu, Fei Kong, Shuting Huang, Qiuping Liao, Jinfu Zhou, Jinfu Zhou, Jinying Luo   +6 more
doaj   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Metabolomic Profile of Weight Gain of People Living with HIV Treated with Integrase Strand Transfer Inhibitor Regimens Reveals Dysregulated Lipid Metabolism and Mitochondrial Dysfunction

Metabolites
Background/Objectives: Excessive weight gain is a growing concern among people living with HIV (PWH) receiving integrase strand transfer inhibitor (INSTI)-based regimens as first-line antiretroviral therapy (ART), as it may contribute to multimorbidity ...
Ana Miriam Ascencio-Anastacio, Violeta Larios-Serrato, José Antonio Mata-Marín, Mara Rodríguez Evaristo, Mireya Núñez-Armendáriz, Ana Luz Cano-Díaz, Alberto Chaparro-Sánchez, Gloria Elizabeth Salinas-Velázquez, Angélica Maldonado-Rodríguez, Javier Torres, María Martha García-Flores, Zuriel Eduardo Martínez-Valencia, Beatriz Irene Arroyo-Sánchez, Viridiana Olin-Sandoval, Fernando Minauro, Jesus Enrique Gaytán-Martínez, Ericka Nelly Pompa-Mera   +16 more
doaj   +1 more source