Results 101 to 110 of about 3,050,482 (146)

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. [PDF]

J Clin Invest, 2021
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL.   +30 more
europepmc   +1 more source

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1? [PDF]

PLoS One, 2021
Minenkova A, Jansen EEW, Cameron J, Barto R, Hurd T, MacNeil L, Salomons GS, Mercimek-Andrews S.   +7 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

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes. [PDF]

Mol Genet Metab Rep, 2022
Tseng LA, Teela L, Janssen MC, Bok LA, Willemsen MAAP, Neuteboom RF, Haverman L, Gospe SM, Coughlin CR, van Karnebeek CDM.   +9 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

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

Vitamin K as an add-on therapy in pyridoxine-dependent epilepsy. [PDF]

Mol Ther
Houten SM.
europepmc   +1 more source

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. [PDF]

Genes (Basel)
Falsaperla R, Salvo E, Sapuppo A, Barberi C, Sortino V, Fusto G, Rizzo R, Pappalardo XG, Corsello G, Ruggieri M, Romano C, Saccuzzo L, Fichera M, Bonaglia MC.   +13 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

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study. [PDF]

Front Neurol
Yu X, Zhang X, Qiu S, Yang L, Li X, Shi D.   +5 more
europepmc   +1 more source