al Aqeel, A.; Rashed, M.; Ozand, P. T., et al. A new patient with alpha-ketoglutaric aciduria and progressive
extrapyramidal tract disease. Brain Dev, v.16 Suppl, Nov, p.33-7. 1994.
Bennett, M. J.; Coates, P. M.; Hale, D. E., et al. Analysis of abnormal urinary metabolites in the
newborn period in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis, v.13, n.5,
p.707-15. 1990.
Divry, P.; Jakobs, C.; Vianey-Saban, C., et al. L-2-hydroxyglutaric aciduria: two further cases. J
Inherit Metab Dis, v.16, n.3, p.505-7. 1993.
Divry, P.; Vianey-Liaud, C.; Cotte, J. Gas chromatography--mass spectrometry (GC--MS) diagnosis of
two cases of medium chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis, v.7 Suppl 1, p.44-7.
1984.
_____.Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a
three-year period. Biomed Environ Mass Spectrom, v.14, n.11, Nov, p.663-8. 1987.
Guneral, F. e Bachmann, C. Age-related reference values for urinary organic acids in a healthy
Turkish pediatric population. Clin Chem, v.40, n.6, Jun, p.862-6. 1994.
Hagen, T.; Korson, M. S.; Sakamoto, M., et al. A GC/MS/MS screening method for multiple organic
acidemias from urine specimens. Clin Chim Acta, v.283, n.1-2, May, p.77-88. 1999.
Hoffmann, G.; Aramaki, S.; Blum-Hoffmann, E., et al. Quantitative analysis for organic acids in
biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.
Clin Chem, v.35, n.4, Apr, p.587-95. 1989.
Kuhara, T.; Inoue, Y.; Shinka, T., et al. Identification of 3-hydroxy-3-ethylglutaric acid in urine of
patients with propionic acidaemia. Biomed Mass Spectrom, v.10, n.12, Dec, p.629-32. 1983.
Kuhara, T. e Matsumoto, I. Studies on the urinary acidic metabolites from three patients with
methylmalonic aciduria. Biomed Mass Spectrom, v.7, n.10, Oct, p.424-8. 1980.
Kuhara, T.; Shinka, T.; Matsuo, M., et al. Increased excretion of lactate, glutarate,
3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia. Clin
Chim Acta, v.123, n.1-2, Aug 4, p.101-9. 1982.
Kumps, A.; Duez, P.; Mardens, Y. Metabolic, nutritional, iatrogenic, and artifactual sources of
urinary organic acids: a comprehensive table. Clin Chem, v.48, n.5, May, p.708-17. 2002.
Lee, C.; Tsai, F. J.; Wu, J. Y., et al. 3-hydroxy-3-methylglutaric aciduria presenting with Reye
like syndrome: report of one case. Acta Paediatr Taiwan, v.40, n.6, Nov-Dec, p.445-7. 1999.
Lindblad, B. e Steen, G. Identification of 4,6-dioxoheptanoic acid (succinylacetone),
3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from
patients with hereditary tyrosinemia. Biomed Mass Spectrom, v.9, n.10, Oct, p.419-24. 1982.
Matsumoto, M.; Matsumoto, I.; Shinka, T., et al. Organic acid and acylcarnitine profiles of glutaric
aciduria type I. Acta Paediatr Jpn, v.32, n.1, Feb, p.76-82. 1990.
Niwa, T. Mass spectrometry in disorders of organic acid metabolism. Clin Chim Acta, v.241-242,
Oct-Nov, p.293-384. 1995.
Norman, E. J. Detection of cobalamin deficiency using the urinary methylmalonic acid test by gas
chromatography mass spectrometry. J Clin Pathol, v.46, n.4, Apr, p.382. 1993.
Norman, E. J.; Denton, M. D.; Berry, H. K. Gas-chromatographic/mass spectrometric detection of
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins. Clin Chem, v.28, n.1, Jan,
p.137-40. 1982.
Pitt, J. J. Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit
Metab Dis, v.16, n.2, p.392-8. 1993.
Shimizu, N.; Yamaguchi, S.; Orii, T. A study of urinary metabolites in patients with dicarboxylic
aciduria for differential diagnosis. Acta Paediatr Jpn, v.36, n.2, Apr, p.139-45. 1994.
Shimizu, N.; Yamaguchi, S.; Orii, T., et al. Mass spectrometric analysis of metabolite excretion in
five Japanese patients with the late-onset form of glutaric aciduria type II. Biol Mass Spectrom,
v.20, n.8, Aug, p.479-83. 1991.
Shinka, T.; Inoue, Y.; Ohse, M., et al. Rapid and sensitive detection of urinary 4-hydroxybutyric acid
and its related compounds by gas chromatography-mass spectrometry in a patient with succinic
semialdehyde dehydrogenase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci, v.776, n.1,
Aug 25, p.57-63. 2002.
Truscott, R. J.; Malegan, D.; McCairns, E., et al. New metabolites in isovaleric acidemia. Clin Chim
Acta, v.110, n.2-3, Mar 5, p.187-203. 1981.
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