Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric
about
The X-Ray Crystal Structure of Escherichia coli Succinic Semialdehyde Dehydrogenase; Structural Insights into NADP+/Enzyme InteractionsSuccinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significanceNeurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during developmentA review of traditional and novel treatments for seizures in autism spectrum disorder: findings from a systematic review and expert panel.Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8)Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Neuropathology in succinic semialdehyde dehydrogenase deficiency.Adrenal cortex expression quantitative trait loci in a German Holstein × Charolais crossPlasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice.Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patientsSSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiencyEfficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.Modeling conformational redox-switch modulation of human succinic semialdehyde dehydrogenase.A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
P2860
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P2860
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Therapeutic concepts in succin ...... zation of gamma-hydroxybutyric
@nl
type
label
Therapeutic concepts in succin ...... zation of gamma-hydroxybutyric
@nl
prefLabel
Therapeutic concepts in succin ...... zation of gamma-hydroxybutyric
@nl
P2093
P2860
P3181
P1476
Therapeutic concepts in succin ...... droxybutyric acid pharmacology
@en
P2093
K M Gibson
O Carter Snead
T Bottiglieri
P2860
P2888
P304
P3181
P356
10.1007/S10545-007-0574-2
P407
P577
2007-06-01T00:00:00Z
P6179
1049462135