Results 171 to 180 of about 3,724 (217)

Targeting AASS improves neurotoxicity and mitochondrial function in astrocyte models for pyridoxine dependent epilepsy [PDF]

Imke M. E. Schuurmans, Udo F. H. Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam, Gijs-Jan Scholten, Sara B. van Katwijk, Astrid Oudakker, Hilal H. Al-Shekaili, Dirk J. Lefeber, Blair R. Leavitt, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +13 more
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency [PDF]

, 2017
et al,, Pearson, Toni S
core   +1 more source

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Flavia Maria Consuelo La Mendola, Tiziana Timpanaro, Daniela Caruso, Maria Teresa Garozzo, Santiago Presti, Cátia Romano, Elena R. Praticò, Antonio Zanghì, Raffaele Falsaperla   +8 more
openalex   +2 more sources

High frequency deep brain stimulation of the hippocampus in a rat model for temporal lobe epilepsy [PDF]

, 2006
Boon, Paul, CLAEYS, P, De Smedt, Tim, Leybaert, Luc, Mabilde, Cyriel, Raedt, Robrecht, Van den broecke, Caroline, Wadman, Wytse, Waterschoot, Liesbeth, Wyckhuys, Tine   +9 more
core   +1 more source

Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]

Front Mol Neurosci
Valderrama GV, Moreira GA, Arruda P.
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

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Novel mutations in pyridoxine-dependent epilepsy

European Journal of Paediatric Neurology, 2011
Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease has to be diagnosed early and treated to improve outcome. We report on two new mutations that open new prenatal prospects and suggest a new diagnostic procedure.We describe PDE in a ...
Millet, Arnaud, Salomons, Gajja, Cneude, Fabrice, Corne, Christelle, Debillon, Thierry, Jakobs, Cornelis, Struys, Eduard, Hamelin, Sophie   +7 more
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Gene sleuthing in pyridoxine-dependent epilepsy

Neurology, 2015
Epilepsies caused by inborn errors of metabolism consist of a broad range of diseases, typically with early life onset and often associated with progressive encephalopathy. Early recognition and targeted therapy are key to improved outcomes in several metabolic epilepsies, including those related to the pyridoxal vitamer dependencies.
Weckhuysen, Sarah, Pearl, Phillip L.
openaire   +3 more sources