Results 131 to 140 of about 6,761,337 (191)

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. [PDF]

Acta Epileptol
Mu J, Jiang W, Tang Y, Zhou D, Liao W.
europepmc   +1 more source

Preserving mitochondrial homeostasis protects against drug-induced liver injury via inducing OPTN (optineurin)-dependent Mitophagy. [PDF]

Autophagy
Wang J, Qiu Y, Yang L, Wang J, He J, Tang C, Yang Z, Hong W, Yang B, He Q, Weng Q.   +10 more
europepmc   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1. [PDF]

J Med Chem
Barroso M, Puchwein-Schwepcke A, Buettner L, Goebel I, Küchler K, Muntau AC, Delgado A, Garcia-Collazo AM, Martinell M, Barril X, Cubero E, Gersting SW.   +11 more
europepmc   +1 more source

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways. [PDF]

NPJ Genom Med
Tuncay IO, Lee EK, Gustafson A, Lee Y, Jung D, Koh JY, Lee W, Lee S, Shazand K.   +8 more
europepmc   +1 more source

Glutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report. [PDF]

Cureus
Patil MG, Tyagi N, Avuthu OPR, Salunkhe S.   +3 more
europepmc   +1 more source

Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Dermitzakis I, Gargani S, Manthou ME, Theotokis P.   +6 more
europepmc   +1 more source

Transcriptomics and metabolomics insights into the seasonal dynamics of meat quality in yak on the Qinghai-Tibetan Plateau. [PDF]

BMC Genomics
Guo T, Wang X, Zhang Q, Jia Y, Liu H, Hu L, Zhao N, Xu S, Duan Y, Jia K.   +9 more
europepmc   +1 more source

Dysregulation of cellular metabolism within the gut-brain axis is associated with behavioural changes in chronic intestinal inflammation. [PDF]

J Neuroinflammation
Devereaux J, Robinson AM, Stavely R, Davidson M, Filippone RT, Ephraim R, Kiatos D, Apostolopoulos V, Nurgali K.   +8 more
europepmc   +1 more source