Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.Transcriptome profiles in peripheral white blood cells at the time of artificial insemination discriminate beef heifers with different fertility potential.

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Q31141051-77748E9F-1D03-4AFC-B08E-359DA93F9C88 Q49800535-6FA4D4DE-A176-4061-8D7B-A0006F743253

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Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

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Evidence of redox imbalance in ...... ehyde dehydrogenase deficiency

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Evidence of redox imbalance in ...... ehyde dehydrogenase deficiency

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Evidence of redox imbalance in ...... ehyde dehydrogenase deficiency

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Evidence of redox imbalance in ...... ehyde dehydrogenase deficiency

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Anna-Kaisa Niemi

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Candida Brown

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Gregory M Enns

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Tereza Moore

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Tina M Cowan

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Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Redox-switch modulation of human SSADH by dynamic catalytic loop

Free radicals, antioxidants, and nutrition

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

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)

Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydrogenase (ALDH5A)

Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria)

Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men

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129-132

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scholarly article

case report

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10.1016/J.YMGMR.2014.02.005

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2014-04-01T00:00:00Z

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262922447

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27896081

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succinic semialdehyde dehydrogenase deficiency

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5121295

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Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

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P2860

P2860

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

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P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P5875

P698

P921

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P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P5875

P698

P921

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