Results 101 to 110 of about 2,694,828 (149)

Pyridoxine-dependent and other pyridoxine-responsive epilepsies-insights into phenotype overlapping and the long-term outcome in a cohort of 21 children. [PDF]

Front Neurol
Kravljanac R, Vučetić Tadić B, Oparnica V.   +2 more
europepmc   +1 more source

RASGEF1B suppresses hepatocellular carcinoma through the ALDH7A1/Betaine/SNAI1 metabolic‒epigenetic axis. [PDF]

J Transl Med
Guo Z, Tan K, Li Z, Ren Y, Dai Y, Jin M, Fu Y, Hu Y, Guo J, Zhang M, Liu C, Fu S, Shen F.   +12 more
europepmc   +1 more source

Early-onset pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: the first genetically confirmed case from Palestine. [PDF]

Ann Med Surg (Lond)
Pujee BK, Mujahed R, Thabaineh RW, Ghayyada S, Tbaisha D, Atwan MY, Shawabka AM.   +6 more
europepmc   +1 more source

Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development. [PDF]

Biomolecules
Abedrabbo M, Al Yazeedi S, Leavitt BR, Al-Shekaili H.   +3 more
europepmc   +1 more source

Uncovering metabolic reprogramming in ovarian and cervical cancers with multi-omics. [PDF]

iScience
Ge Y, Luo Y, Hao B, Zhou Y, Wu R, Liu H, Tang L, Li Y, Li Y, Gong S, Liu H.   +10 more
europepmc   +1 more source

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