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.

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