Eminoglu, TF, Tumer, L, Okur, I, et al. Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide. Forensic Sci Int 2011;210:e1–3.CrossRefGoogle ScholarPubMed

Blau, N, Duran, M, Gibson, KM (eds.). Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008.CrossRefGoogle Scholar

Saudubray, JM, van der Berghe, G, Walter, JH (eds.) Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 2012.CrossRefGoogle Scholar

Saudubray, JM. Clinical approach to inborn errors of metabolism in pediatrics. In Saudubray, JM, van der Berghe, G, Walter, JH (eds.) Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 2012, pp. 4–54.CrossRefGoogle Scholar

Crushell, E, Chukwu, J, Mayne, P, Blatny, J, Treacy, EP. Negative screening tests in classical galactosaemia caused by S135L homozygosity. J Inherit Metab Dis 2009;32:412–415.CrossRefGoogle ScholarPubMed

Johnson, JL, Duran, M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In Valle D, Beaudet AL, Vogelstein B, et al. (eds.) The Online Metabolic & Molecular Bases of Inherited Disease. (, accessed 22 July 2013).

Rinaldo, P. Postmortem investigations. In Hoffman, GF, Zschocke, J, Nyhan, WL (eds.) Inherited Metabolic Diseases. Berlin: Springer-Verlag, 2010, pp. 335–338.CrossRefGoogle Scholar

Rinaldo, P, Cowan, TM, Matern, D. Acylcarnitine profile analysis. Genet Med 2008;10:151–156.CrossRefGoogle ScholarPubMed

Rinaldo, P. Organic acids. In Blau, N, Duran, N, Gibson, KM (eds.) Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008, pp. 137–170.CrossRefGoogle Scholar

Pitt, JJ, Hauser, S. Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects. Clin Chem 1998;44:1497–1503.Google ScholarPubMed

Matern, D. Acylcarnitines, including in vitro loading tests. In Blau, N, Duran, N, Gibson, KM (eds.) Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008, pp. 171–206.CrossRefGoogle Scholar

Vassault, A. Lactate, pyruvate, acetoacetate and 3-hydroxybutyrate. In Blau, N, Duran, N, Gibson, KM (eds.) Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008, pp. 35–51.CrossRefGoogle Scholar

Wang, D, De Vivo, D. Pyruvate carboxylase deficiency. In Pagon, RA, Bird, TD, Dolan, CR, Stephens, K (eds.) GeneReviews. Seattle, WA: University of Washington, Seattle, 1993– (website, updated July 2011; accessed March 13, 2012).Google ScholarPubMed

Coude, FX, Ogier, H, Marsac, C, et al. Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. Pediatrics 1981;68:914.Google ScholarPubMed

Munnich, A, Saudubray, J-M, Taylor, J, et al. Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyldehydrogenase deficiency. Acta Paediatr Scand 1982;71:167–171.CrossRefGoogle Scholar

Bonnefont, JP, Chretien, D, Rustin, P, et al. Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr 1992;121:255–258.CrossRefGoogle ScholarPubMed

Shih, VE. Amino acid analysis. In Blau, N, Duran, M, Blaskovics, ME, et al. (eds.) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd edn. Berlin: Springer-Verlag, 2003, pp. 11–26.CrossRefGoogle Scholar

Tein, I. Neonatal metabolic myopathies. Semin Perinatol 1999;23:125–151.CrossRefGoogle ScholarPubMed

Chalmers, RA. Organic acids in urine of patients with congenital lactic acidosis: an aid to differential diagnosis. J Inherit Metab Dis 1984;7(suppl 1):79–89.CrossRefGoogle ScholarPubMed

Cowan, TM, Blitzer, MG, Wolf, B. Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med 2010;12:464–470.CrossRefGoogle Scholar

Bourgeron, T, Rustin, P, Chretien, D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11:144–149.CrossRefGoogle ScholarPubMed

Bennett, MJ, Sherwood, WG, Gibson, KM, et al. Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inherit Metab Dis 1993;16:560–562.CrossRefGoogle ScholarPubMed

Strauss, AW, Andresen, BS, Bennett, MJ. Mitochondrial fatty acid oxidation defects. In Sarafoglu, K, Hoffman, GF, Roth, KS (eds.) Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw Hill Medical, 2009, pp. 51–70.Google Scholar

Rinaldo, P, Matern, D. Disorders of fatty acid transport and mitochondrial oxidations. In Rimoin, DL, Connor, MJ, Pyeritz, RE, Korf, BR (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics, 5th edn, vol 3. Philadelphia, PA: Churchill Livingstone-Elsevier, 2007, pp. 2285–2295.Google Scholar

Rinaldo, P, Stanley, CA, Sanchez, LA, et al. Sudden neonatal death in carnitine transporter deficiency. J Pediatr 1997;131:304–305.CrossRefGoogle ScholarPubMed

Raymond, K, Bale, AE, Barnes, CA, et al. Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman. Genet Med 1999;1:293–294.CrossRefGoogle ScholarPubMed

Patel, JS, Leonard, JV. Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1995;18:98–99.CrossRefGoogle ScholarPubMed

Rinaldo, P, Raymond, K, al-Odaib, A, Bennett, MJ. Fatty acid oxidation disorders: clinical and biochemical features. Curr Opin Pediatr 1998;10:615–621.CrossRefGoogle ScholarPubMed

Drousiotou, A, DiMeo, I, Mineri, R, et al. Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. Clin Genet 2011;79:385–390.CrossRefGoogle ScholarPubMed

Stanley, CA, DeLeeuw, S, Coates, PM, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991;30:709–716.CrossRefGoogle ScholarPubMed

Vogeser, M, Seger, C. A decade of HPLC-MS/MS in the routine clinical laboratory: goals for further developments. Clin Biochem 2008;41:649–662.CrossRefGoogle ScholarPubMed

Rinaldo, P, Yoon, HR, Yu, C, et al. Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Semin Perinatol 1999;23:204–210.CrossRefGoogle ScholarPubMed

Summar, ML. Urea cycle disorders. In Sarafoglu, K, Hoffman, GF, Roth, KS (eds.) Pediatric Endocrinology and Inborn Errors of Metabolism. New York, McGraw Hill Medical, 2009, pp. 141–152.Google Scholar

Bachmann, C, Colombo, JP. Acid-base status and plasma glutamine in patients with hereditary urea cycle disorders. In Soeters, PB, Wilson, JHP, Meijer, AJ, et al. (eds.) Advances in Ammonia Metabolism and Hepatic Encephalopathy. Amsterdam: Elsevier, 1988, pp. 72–78.Google Scholar

Dietzen, DJ, Rinaldo, P, Whitley, RJ, et al. National Academy of Clinical Biochemistry laboratory medicine practice guidelines – Follow up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry. Clin Chem 2009;55:1615–1626.CrossRefGoogle ScholarPubMed

Chuang, DT, Wynn, RM, Shih, VE. Maple syrup urine disease (branched-chain ketoaciduria). In Valle D, Beaudet AL, Vogelstein B, et al. (eds.) The Online Metabolic & Molecular Bases of Inherited Disease (, accessed 22 July 2013).

Matthews, DE, Ben-Galim, E, Haymond, MW, et al. Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism. Pediatr Res 1980;14:854–857.Google ScholarPubMed

Oglesbee, D, Sanders, KA, Lacey, JM, et al. 2nd-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem 2008;54:542–549.CrossRefGoogle Scholar

Dulac, O, Rolland, MO. Nonketotic hyperglycinaemia (glycine encephalopathy). In Saudubray, JM, van den Berghe, G, Walter, JH (eds.) Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 2012, pp. 349–356.CrossRefGoogle Scholar

Hamosh, A, Johnston, MV. Nonketotic hyperglycinemia. In Valle D, Beaudet AL, Vogelstein B, et al. (eds.) The Online Metabolic & Molecular Bases of Inherited Disease (, accessed 22 July 2013).

Watson, MS, Mann, MY, Lloyd-Puryear, MA, Rinaldo, P, Howell, RR. Newborn screening: toward a uniform screening panel and system. Genet Med 2006;8(Suppl):1S–11S.CrossRefGoogle Scholar

Rinaldo, P, Matern, D. Newborn screening for inherited metabolic diseases. In Hoffman, GF, Zschocke, J, Nyhan, WL (eds.) Inherited Metabolic Diseases. Berlin: Springer-Verlag, 2010, pp. 251–262.CrossRefGoogle Scholar

Turgeon, C, Magera, MJ, Allard, P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 2008;54:657–664.CrossRefGoogle ScholarPubMed

Tortorelli, S, Turgeon, CT, McHugh, DMS, et al. Two-tier approach to the newborn screening of methylene tetrahydrofolate reductase deficiency and other re-methylation disorders by tandem mass spectrometry. J Pediatr 2010;157:271–275.CrossRefGoogle Scholar

Turgeon, CT, Magera, MJ, Cuthbert, CD, et al. Simultaneous determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem 2010;56:1686–1695.CrossRefGoogle Scholar

McHugh, DMS, Cameron, CA, Abdenur, JE, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genet Med 2011;13:230–254.CrossRefGoogle ScholarPubMed

Marquardt, G, Currier, R, McHugh, DMS, et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med 2012; 14:648–655.CrossRefGoogle ScholarPubMed

Green, NS, Rinaldo, P, Brower, A, et al. Committee report: advancing the current recommended panel of conditions for newborn screening. Genet Med 2007;9:792–796.CrossRefGoogle ScholarPubMed

Calonge, N, Green, NS, Rinaldo, P, et al. Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med 2010;12:153–159.CrossRefGoogle ScholarPubMed