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Touati G, Rigal O, Lombes A et al. (1997) In vivo functional investigations of lactic acid in patients with respiratory chain disorders. Arch Dis Child 76:16–21
Poggi-Travert F, Martin D, Billette de Villemeur T et al. (1996) Metabolic intermediates in lactic acidosis: compounds, samples and interpretation. J Inherit Metab Dis 19:478–488
Bonnefont JP, Specola NB, Vassault A et al. (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo-and hyperketotic states. Eur J Pediatr 150:80–85
Fernandes J, Huying F, Van de Kamer JH (1969) A screening method for liver glycogen diseases. Arch Dis Child 44:311–317
Ching-Shiang Chi, Suk-Chun Mak, Wen-Jye Shian, Chao-Huei Chen (1992) Oral glucose lactate stimulation in mitochondrial diseases. Pediatr Neurol 8:445–449
Steinmann B, Gitzelmann R (1981) The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta 36:297–316
Haan EA, Danks DM, Grimes A, Hoogenraad NJ (1982) Carrier detection in ornithine transcarbamylase deficiency. J Inherit Metab Dis 5:37–40
Burlina AB, Ferrari V, Dionisi-Vici C et al. (1992) Allopurinol challenge in children. J Inherit Metab Dis 15:707–712
Spada M, Guardamagna O, Rabier D et al. (1994) Recurrent episodes of bizarre behaviour in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests. J Pediatr 125:249–251
Costa CCG, Tavares de Almeida I, Jakobs C et al. (1999) Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in normal children. Pediatr Res 46:440–444
Ponzone A, Guardamagna O, Spada M et al. (1993) Differential diagnosis of hyperphenylalaninemia by a combined phenylalaninetetrahydrobiopterin loading test. Eur J Pediatr 152:665–661
Muntau AC, Röschinger MD, Habich M et al. (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347:2122–2132
Weglage J, Grenzebach A, Teefelen-Heithoff V et al. (2002) Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients. J Inherit Metab Dis 25:321–322
Kono N, Tarui S (1990) The exercise test. In: Fernandes J, Saudubray J-M, Tada K (eds) Inborn metabolic diseases. Diagnosis and treatment. Springer, Berlin Heidelberg New York
Kono N, Mineo I, Shimizu T et al. (1986) Increased plasma uric acid after exercise in muscle phosphofructokinase deficiency. Neurology 36:106–108
Kronick JB, Scriver CR, Goodyer PR Kaplan PB (1983) A perimortem protocol for suspected genetic disease. Pediatrics 71:960–963
Helweg-Larsen K (1993) Postmortem protocol. Acta Paediatr [Suppl] 389:77–79
Poggi F, Rabier D, Vassault A et al. (1994) Protocole d’investigations métaboliques dans les maladies héréditaires du métabolisme. Arch Pediatr 1:667–673
Rashed MS, Ozand PT, Bennett J et al. (1995) Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41:1109–1114
Brookes JAS, Hall-Craggs MA, Sams VR, Lees WR (1996) Non-invasive perinatal necropsy by magnetic resonance imaging. Lancet 348:1139–1141
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Touati, G., Huber, J., Saudubray, JM. (2006). Diagnostic Procedures: Function Tests and Postmortem Protocol. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_3
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DOI: https://doi.org/10.1007/978-3-540-28785-8_3
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