Results 281 to 290 of about 4,359,350 (361)

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

Metabolomics in the Context of Exercise in Subjects with Multimorbidity: A Pilot Study. [PDF]

Biomolecules
Bankamp R, Schweda S, Janzen N, Nieß AM, Krauß I, Munz B.   +5 more
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, a new biomarker screened based on untargeted metabolomics, predict cardiac surgery-associated acute kidney injury: a prospective cohort study. [PDF]

BMC Nephrol
Chen W, Zhang H, Shen X, Hong L, Tao H, Chen M, Zhang C, Yu W.   +7 more
europepmc   +1 more source

A Nonketotic Hyperglycinemia Mouse Shows Wide‐Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One‐Carbon Charging, and Serine Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments.
Michael A. Swanson, Hua Jiang, Lakshmi Divya Kolora, Rachel Molino, Richard Reisdorph, Cole R. Michel, Katrina A. Doenges, Kit‐Yi Leung, Xiangping Lin, Frank Wong, Samual Lancaster, Basil Michael, Michael Snyder, Daniella H. Hock, David A. Stroud, Tim Wood, Robert Binard, Laura Anderson‐Lehman, Uwe Christians, Erland Arning, Marisa W. Friederich, Roxanne A. Van Hove, Kenneth N. MacLean, Nicholas D. E. Greene, Johan L. K. Van Hove   +24 more
wiley   +1 more source

Innovations in peritoneal dialysis fluid: biocompatible formulations and expanded therapeutic applications. [PDF]

Ren Fail
Xu Q, Zhou Z, Jin L, Liu C, Li P, Wang F, Zhang L, Fu P.   +7 more
europepmc   +1 more source

Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Long‐chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child‐bearing age.
Sarah C. Grünert, Mirjam Langeveld, Lisa Rudolph, Ute Spiekerkoetter, Allan M. Lund, Annalisa Sechi, Halil Tuna Akar, Karolina M. Stepien, Hanım Aghakishili, Amelie S. Lotz‐Havla, Klaus G. Parhofer, Saadet Mercimek‐Andrews, Havva Yazıcı, Sema Kalkan Uçar, Thomas Scherer, Margreet Wagenmakers, Nur Arslan, Irene Chang, Allie LaTray, Vladimir Bzduch, Ivo Barić, Corina Weigel, Sonja. L. van Ockenburg, Alexander Rennings, Terry G. J. Derks, Alessandro Rossi, David Cassiman, Elaine Murphy   +27 more
wiley   +1 more source

Paediatric CSF acylcarnitine reference ranges. [PDF]

Front Mol Biosci
Plaatjie ON, Tutu Van Furth AM, Solomons R, Van Der Kuip M, Mason S.   +4 more
europepmc   +1 more source

Evidence for a positive association between serum carnitine and free testosterone levels in uremic men with hemodialysis.

, 2013
和子 酒井
openalex   +1 more source

Low Bioavailability and High TMAO Production: Novel Insights Into Acetylcarnitine and Carnitine Metabolism. [PDF]

Mol Nutr Food Res
Krims-Davis K, Ozola M, Razzivina V, Gukalova B, Konrade I, Dambrova M, Liepinsh E.   +6 more
europepmc   +1 more source