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D-2-Hydroxyglutaric aciduria

Holmes, E. Foxall, P.J.D. Spraul, M. Farrant, R.D. Nicholson, J.K. Lindon, J.C. 750 MHz H-1 NMR Spectroscopy Characterisation of the Complex Metabolic Pattern of Urine from Patients with Inborn Errors of Metabolism 2-Hydroxyglutaric Aciduria and Maple Syrup Urine Disease, . 7. Pharm. Biomed. Anal. 15(11), 1647-1659 (1997). [Pg.144]

A few patients with combined D-2- and L-2-hydroxyglutaric aciduria have been reported. Whether these patients represent another clinical and/... [Pg.217]

Muntau AC, Roschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Rosher AA. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy A third biochemical variant of 2-hydroxyglutaric aciduria Neuropediatrics 2000 31 137-140... [Pg.231]

Recently, inherited metabolic diseases have been described in which a particular enantiomeric form of a metabolite is exclusively excreted [42]. Typical examples are D(-l-)-glyceric aciduria [43] and L-2-hydroxyglutaric aciduria [44], Using conventional GC-MS for urinary organic acid screening, increased amounts of these... [Pg.349]

See other pages where D-2-Hydroxyglutaric aciduria is mentioned: [Pg.60]    [Pg.217]    [Pg.218]    [Pg.223]    [Pg.231]    [Pg.231]    [Pg.231]    [Pg.679]    [Pg.140]    [Pg.405]    [Pg.438]    [Pg.60]    [Pg.217]    [Pg.218]    [Pg.223]    [Pg.231]    [Pg.231]    [Pg.231]    [Pg.679]    [Pg.140]    [Pg.405]    [Pg.438]    [Pg.138]    [Pg.215]    [Pg.350]    [Pg.351]    [Pg.141]   
See also in sourсe #XX -- [ Pg.213 , Pg.405 ]



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