Results 141 to 150 of about 20,316 (189)

Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders. [PDF]

JCI Insight
Solo KJ, Zhang Y, Bharathi SS, Zhang BB, Richert AC, Schmidt AV, Van't Land C, D'Annibale O, Wood TC, Goetzman ES.   +9 more
europepmc   +1 more source

Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review. [PDF]

Front Pediatr
Tan YY, Tewani KG, Anand AJ, Kong CX, Rajadurai VS, Chandran S.   +5 more
europepmc   +1 more source

Carbonic anhydrase VA deficiency due to a novel <i>CA5A</i> variant. [PDF]

Mol Genet Metab Rep
Keehan L, Null E, Chilakamarri L, Carter C, Lee C, Enns GM, Matalon DR.   +6 more
europepmc   +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

CSF carnitine is a potential biomarker in paediatric tuberculous meningitis. [PDF]

Sci Rep
Plaatjie ON, van Furth AMT, Solomons R, van der Kuip M, Mason S.   +4 more
europepmc   +1 more source

Cadmium exposure at low environmental levels induces cognitive decline in aged male mice. [PDF]

Neurotoxicology
Lim G, Lee HY, Jarrell ZR, Kang SS, Jones DP, Go YM.   +5 more
europepmc   +1 more source

Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria. [PDF]

Int J Mol Sci
Gonzalez-Rodriguez A, Barrau-Martinez B, Pané A, López Galera RM, Tobias E, Montserrat-Carbonell C, Guitart-Mampel M, Jáuregui O, Roca-Vives R, Garcia-Villoria J, Milisenda JC, Matas-Garcia A, Forga Visa MT, Moreno Lozano PJ, Garrabou G, Urpi-Sarda M, Llorach R, Consortium PKU.cat.   +17 more
europepmc   +1 more source

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis. [PDF]

Orphanet J Rare Dis
Zheng Z, Peng W, Lin Y, Lin W, Wang G.
europepmc   +1 more source

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism. [PDF]

Hum Mol Genet
Hong S, Pardo J, Head PE, Ellis KT, Arnold ML, Achilly NP, Carrington B, Bishop K, Sood R, Kratz L, Sloan JL, Shchelochkov OA, Venditti CP.   +12 more
europepmc   +1 more source