Results 251 to 260 of about 367,412 (367)

Evaluation of Febrile Seizures Focusing on the Diurnal Variation. [PDF]

open access: yesCureus
Miyagi Y   +6 more
europepmc   +1 more source

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox‐inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE).
Myrto Patraskaki   +6 more
wiley   +1 more source

Assessment of febrile seizures in children

open access: gold, 2010
Ersin Töret   +4 more
openalex   +2 more sources

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

open access: yesJIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss   +10 more
wiley   +1 more source

Corrigendum: ATP6V0C is associated with febrile seizures and epilepsy with febrile seizures plus. [PDF]

open access: yesFront Mol Neurosci
Tian Y   +14 more
europepmc   +1 more source

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