Various cases of succinic semialdehyde dehydrogenase deficiency have shown consistently increased amounts of this metabolite, while 2,4-dihydroxybutanoic acid is usually absent in normal human urine extracts or in only trace constituents in neonates.
Journal of chromatography. A, 1293, 142-149 (2013-05-07)
Comprehensive two-dimensional gas chromatography-time-of-flight mass spectrometry (GC×GC-TOFMS) was applied in the quantification and identification of organic compounds in patient-matched human cerebrospinal fluid (CSF) and serum samples. Concentrations of 21 amino and hydroxyl acids varied from 0.04 to 77ng/μl in CSF
Journal of inherited metabolic disease, 10(4), 367-375 (1987-01-01)
In addition to the previously reported abnormalities, urine extracts from three cases of succinic semialdehyde dehydrogenase deficiency have shown consistently increased amounts of 2,4-dihydroxybutyric acid, and its lactone, and 3-hydroxypropionic acid, metabolites related to the alpha-oxidation of 4-hydroxybutyric acid. Threo-
Mild cognitive impairment (MCI) is considered as a transition phase between normal aging and Alzheimer's disease (AD). MCI confers an increased risk of developing AD, although the state is heterogeneous with several possible outcomes, including even improvement back to normal
Gas chromatographic/mass spectrometric/computer analyses of trimethylsilyl derivatives of urine extracts, prepared by an anion-exchange procedure, reveal the presence of several tetronic and deoxytetronic acids. Identifications were confirmed by comparing gas-chromatographic methylene unit values and mass spectrometric characteristics with those of
Metabolomics : Official journal of the Metabolomic Society, 10(5), 897-908 (2014-09-26)
Urease pre-treatment of urine has been utilized since the early 1960s to remove high levels of urea from samples prior to further processing and analysis by gas chromatography-mass spectrometry (GC-MS). Aside from the obvious depletion or elimination of urea, the
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