The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01804241
Reference6 articles.
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2. Gregersen, N., Kølvraa, S., Rasmussen, K., Mortensen, P. B., Divry, P., David, M. and Holboth, N. General (medium chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biological significant organic acids in three cases.Clin. Chim. Acta 132 (1983) 181–191
3. Raper, H. S. and Wayne, E. J. A quantitative study of the oxidation of phenyl-fatty acids in the animal organism.Biochem. J. 22 (1928) 188–197
4. Roe, C. R., Millington, D. S., Maltby, D. A., Bohan, T. P., Kahler, S. G. and Chalmers, R. A. Diagnostic and therapeutic implications of medium chain acyl-carnitines in the medium-chain acyl-CoA dehydrogenase deficiency.Pediatr. Res. 19 (1985) 459–466
5. Rumsby, G., Belloque, J., Ersser, R. S. and Seakins, J. W. T. Effect of temperature and sample preparation on performance of ion-moderated partition chromatography of organic acids in biological fluids.Clin. Chim. Acta 163 (1987) 171–183
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1. Increased urinary excretion of a 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA), an abnormal phenylalanine metabolite ofClostridiaspp. in the gastrointestinal tract, in urine samples from patients with autism and schizophrenia;Nutritional Neuroscience;2010-06
2. Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling;Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases;2003
3. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry;Archives of Disease in Childhood;1998-08-01
4. Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency;Journal of Chromatography B: Biomedical Sciences and Applications;1997-06
5. The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?;Human Molecular Genetics;1997-05-01
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