Results 121 to 130 of about 3,547 (200)

Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation. [PDF]

Mov Disord Clin Pract, 2023
Saini L, Krishna D, Gunasekaran PK, Tiwari S, Kumar P.   +4 more
europepmc   +1 more source

B-Vitamins in Epileptics [PDF]

, 1986
Arab, L., Berlit, Peter, Bonjour, Jean-Pierre, Krause, Klaus-Henning, Kynast, Gisela, Schmidt-Gayk, Heinrich, Somogyi, Johann C.   +6 more
core   +1 more source

Pyridoxine-dependent epilepsy [PDF]

, 2020
openaire   +1 more source

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

Biomolecules
Pyridoxine-dependent epilepsy due to ALDH7A1 deficiency (PDE-ALDH7A1) is a rare but treatable epileptic encephalopathy caused by disruption of lysine catabolism and secondary depletion of pyridoxal-5′-phosphate (PLP).
Muna Abedrabbo, Safiya Al Yazeedi, Blair R. Leavitt, Hilal Al-Shekaili   +3 more
doaj   +1 more source

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2022
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C, International PDE Consortium.   +23 more
europepmc   +1 more source

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. [PDF]

J Inherit Metab Dis, 2023
Crowther LM, Poms M, Zandl-Lang M, Abela L, Hartmann H, Seiler M, Mathis D, Plecko B.   +7 more
europepmc   +1 more source

Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome

Annals of the Child Neurology Society
Introduction Genetic and metabolic conditions can mimic diagnoses such as hypoxic‐ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus‐myoclonus‐ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha‐Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen   +6 more
doaj   +1 more source

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency. [PDF]

Int J Mol Sci, 2022
Böhm HO, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Rootwelt H, Skogvold HB, Brodtkorb E, Elgstøen KBP.   +8 more
europepmc   +1 more source

Pyridoxine responsive epilepsy: expanded pyridoxine dependency? [PDF]

Archives of Disease in Childhood, 1983
J B Stephenson, K E Byrne
openaire   +1 more source

Genetic control of drug metabolism and drug action in man [PDF]

, 1985
The study of genetic factors that modify the individual response to drugs, referred to as "pharmacogenetics" is relatively new field, a discipline at the interface between genetic and clinical pharmacology.
Raghupati Sarma, G
core