Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711808
Reference12 articles.
1. Bennett MJ, Sherwood WG, Gibson KM, Burlina AB (1993) Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.J Inher Metab Dis 16: 560?562.
2. Bergoffen J, Kaplan P, Hale DE, Bennett MJ, Berry GT (1993) Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chainl-3-hydroxyacyl-CoA dehydrogenase deficiency.J Inher Metab Dis 16: 851?856.
3. Carpenter K, Pollitt RJ, Middleton B (1992) Human liver long-chain 3-hydroxyacyl-coenzyme-A dehydrogenase is a multifunctional membrane-bound beta oxidation enzyme of mitochondria.Biochem Biophys Res Commun 183: 443?448.
4. Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W (1993) Muscle cytochromec oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.J Inher Metab Dis 16: 553?556.
5. Hagenfeldt L, Wibom R, Venizelos N, von Dobeln U (1992) Oxidation of fatty acids in fibroblasts from patients with respiratory chain defects.Proc 30th Symposium SSIEM, P.136 (Abstract).
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