Results 111 to 120 of about 2,694,828 (149)

Genetic spectrum of unexplained neonatal seizures: a single-center study. [PDF]

Transl Pediatr
Liu Z, He Y, Huang J, Yang H, Zeng Y, Yu L, Chen T, Wang L, Cai C, Wang R, Wu L, Xu J, Chen D.   +12 more
europepmc   +1 more source

Integrated multi omics and machine learning reveal mitochondrial immunometabolic networks in sepsis associated encephalopathy. [PDF]

Sci Rep
Zhang Z, Qiu X, Zeng X, Liu X, Lu J, Xu C, Huang J, Zhao C, Zhan Y.   +8 more
europepmc   +1 more source

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse. [PDF]

Brain Commun
van Karnebeek CDM, Gailus-Durner V, Engelke UF, Seisenberger C, Marschall S, Dragano NRV, da Silva-Buttkus P, Leuchtenberger S, Fuchs H, Hrabě de Angelis M, Wevers RA, Coughlin CR, Lefeber DJ.   +12 more
europepmc   +1 more source

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect. [PDF]

Mol Genet Metab Rep
Bottino M, Boyer M, Steenari MR, Barrick R, Abdenur JE.   +4 more
europepmc   +1 more source

Ferroptosis suppressor protein 1-mediated ferroptosis suppression in sepsis: non-canonical antioxidant pathways, inflammatory regulation, and therapeutic perspectives. [PDF]

Front Immunol
Tian Y, Li Z, Tian T, Zhu H, Zhou M, Long X, Wang S.   +6 more
europepmc   +1 more source

Identification and Characterization of Cancer-Related Risk Metabolic Subpathways Reveal Their Functional Significance in Cancer. [PDF]

Int J Mol Sci
Zhao H, Yan J, Wu M, Li S, He W, Yin X, Liu W, Liu Y, Fei M, Li W, Lv J, Chen L, Wang L.   +12 more
europepmc   +1 more source

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

Employing zebrafish to understand genetic drivers of epilepsy-related comorbid behaviors. [PDF]

Front Pharmacol
Ononuju C, Hall K, Beatty O, Baraban SC, Carpenter-Swanson C.   +4 more
europepmc   +1 more source

Propionate metabolism-related genes demonstrate the potential to serve as prognostic and immunotherapeutic markers in osteosarcoma. [PDF]

Oncol Lett
Liu W, Xu Z, Li M, Zhu N, Zhang S, Zhang Q, Zhan J.   +6 more
europepmc   +1 more source

Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy. [PDF]

J Neurosci
Liang Z, Wu J, Liu Q, Qin D, Wang M, Zhong X, Guo W.   +6 more
europepmc   +1 more source