Results 111 to 120 of about 2,516,365 (158)

AGPAT3 Regulates Immune Microenvironment in Osteosarcoma via Lysophosphatidic Acid Metabolism. [PDF]

Oncol Res
Su S, Zeng Y, Chen J, Dong X.
europepmc   +1 more source

Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy. [PDF]

Mol Ther Nucleic Acids
Salih MA.
europepmc   +1 more source

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in <i>ALDH7A1</i>: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment. [PDF]

Ther Adv Rare Dis
Ambrose A, McCabe M, Bahl S, Sinasac D, Snyder T, Mercimek-Andrews S.   +5 more
europepmc   +1 more source

Editorial: Rare genetic disorders associated with intellectual disability. [PDF]

Front Psychiatry
Salih MA.
europepmc   +1 more source

Tellimagrandin II Stimulates Inflammasomes by Causing an Accumulation of 3-Aminopropanal, Which Promotes Apoptosis of Endometriotic Cells While Inhibiting Invasion. [PDF]

J Inflamm Res
Fan W, Zhang Y, Zhao R.
europepmc   +1 more source

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

Envelope for Miss Gene E. Smith, Beaver Dam, Wisconsin, 1866

An item in the George Woodard and Gene Smith letters ...
Smith, Gene E.
core  

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