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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

http://www.wikidata.org/entity/Q28237223

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The Promises and Pitfalls of Genoeconomics A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype The pediatric neurotransmitter disorders Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies Synthesis and catabolism of gamma-hydroxybutyrate in SH-SY5Y human neuroblastoma cells: role of the aldo-keto reductase AKR7A2 Altered cerebral glucose and acetate metabolism in succinic semialdehyde dehydrogenase-deficient mice: evidence for glial dysfunction and reduced glutamate/glutamine cycling Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance GABAB-ergic motor cortex dysfunction in SSADH deficiency Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Effect of gene dosage on single-cell hippocampal electrophysiology in a murine model of SSADH deficiency (gamma-hydroxybutyric aciduria).Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice.Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency 'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency.Alterations in gene expression after gamma-hydroxybutyric acid intake-A pilot study.Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.The aldo-keto reductase superfamily and its role in drug metabolism and detoxification

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P2860

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

http://www.wikidata.org/entity/Q28237223

description

2006 nî lūn-bûn

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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2006 թվականի մայիսին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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type

label

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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prefLabel

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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J.BRAINRES.2006.02.131

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Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

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Andrea Buzzi

http://www.w3.org/2001/XMLSchema#string

Chun C Liu

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Jose L Perez Velazquez

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K Michael Gibson

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Li Q Shen

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Marina V Frantseva

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Miguel A Cortez

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O Carter Snead

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Ying Wu

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15-22

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scholarly article

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10.1016/J.BRAINRES.2006.02.131

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1

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16647690

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Aldhehyde dehydrogenase family 5, subfamily A1

succinic semialdehyde dehydrogenase deficiency