Further Reading

Burton BK (1998) Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 102: E69.

Chace DH, Kalas TA, and Naylor EW (2003) Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clinical Chemistry 49: 1797-1817.

Fernandes J, Saudubray J-M, and van den Berghe G (eds.) (2000) Inborn Metabolic Diseases, 3rd edn. Berlin: Springer-Verlag.

Gillingham MB, Connor WE, Matern D et al. (2003) Optimal dietary therapy of long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism 79: 114-123.

Holme E and Lindstedt S (1998) Tyrosinemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). Journal of Inherited Metabolic Disease 21: 507-517.

Kahler SG and Fahey MC (2003) Metabolic disease and mental retardation. American Journal of Medical Genetics 117C: 31-41.

Levy HL, Sepe SJ, Walton DS et al. (1978) Galactose-1-phosphate uridyl transferase deficiency due to the Duarte/galactosemia combined variation: clinical and biochemical studies. Journal of Pediatrics 92: 390-393.

Podebrad F, Heil M, Reichert S et al. (1999) 4,5-Dimethyl-3-hydroxy-2[5H]-furanone (sotolone)—the odour of maple syrup urine disease. Journal of Inherited Metabolic Disease 22: 107-114.

Vockley J, Singh RH, and Whiteman DA (2002) Diagnosis and management of defects of mitochondrial beta-oxidation. Current Opinion in Clinical Nutrition and Metabolic Care 5: 601-609.

Walter JH, Collins JE, and Leonard JV (1999) Recommendations for the management of galactosemia. UK Galactosemia Steering Group. Archives of Disease in Childhood 80: 93-96.

Zytkovicz TH, Fitzgerald EF, Marsden D et al. (2001) Tandem mass spectrometric analysis for amino, organic and fatty acid disorders in newborn dried blood spots: a two-year summary from the new England Newborn Screening Program. Clinical Chemistry 47: 1945-1955.

Was this article helpful?

0 0
Lose 10 Pounds Naturally

Lose 10 Pounds Naturally

Studies show obesity may soon overtake tobacco as the leading cause of death in America. Are you ready to drop those extra pounds you've been carrying around? Awesome. Let's start off with a couple positive don't. You don't need to jump on a diet craze and you don't need to start exercising for hours each day.

Get My Free Ebook


Post a comment