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

Molecular Genetics and Metabolism Reports

Volumn 1, Issue 1, 2014, Pages 129-132

  Niemi, Anna Kaisa ^a   Brown, Candida ^b   Moore, Tereza ^c   Enns, Gregory M ^a   Cowan, Tina M ^c  

^a STANFORD UNIVERSITY   (United States)

^b Diablo Valley Child Neurology Stanford Health Alliance   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Glutathione; GSH; Mitochondria; Oxidative stress; SSADH

Indexed keywords

2 HYDROXYGLUTARIC ACID; 4 HYDROXYBUTYRIC ACID; 4,5 DIHYDROXYHEXANOIC ACID LACTONE; ADIPIC ACID; ALDH5A1 PROTEIN; CARBOXYLIC ACID; DICARBOXYLIC ACID; GLUTARIC ACID; GLUTATHIONE; GLYCOLIC ACID; HYDRACRYLIC ACID; LACTONE; PROTEIN; TAURINE; UNCLASSIFIED DRUG; VIGABATRIN; CREATINE KINASE; LACTIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ARTICLE; CASE REPORT; CESAREAN SECTION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GRAVITY; HETEROZYGOTE; HUMAN; INFANT; INHERITANCE; INTRON; LIQUID CHROMATOGRAPHY; MISSENSE MUTATION; MUSCLE HYPOTONIA; OXIDATIVE STRESS; PHYSICAL EXAMINATION; PREGNANCY; STARTLE REFLEX; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TANDEM MASS SPECTROMETRY; TENDON REFLEX; URINE; AMINO ACID BLOOD LEVEL; LACTATE BLOOD LEVEL; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATION REDUCTION REACTION; PROTEIN BLOOD LEVEL; URINALYSIS;

MUS;

EID: 84905168835     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2014.02.005     Document Type: Article

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