Newborn screening for homocystinuria

Mudd, S.H., Skovby, F., Levy, H.L. et al. (1985): The natural history of homocystinuria due to cysthathionine β-synthase deficiency. Am. J. Hum. Genet., 37, 1–31. Mudd, S.H., Levy, H. and Skovby, F. (1995): Disorders of Transsulfuration, In: The Metabolic and Molecular Basis of Inherited Metabolic Disease, pp. 1279–1328. Editors: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle. McGraw-Hill, New York. Mudd, S.H. (1982): Vitamin-responsive genetic abnormalities. Adv. Nutr. Res., 4, 1–34. Piez, K.P. and Morris, L. (1960): A modified procedure for the automatic analysis of amino acids. Anal. Biochem., 1, 187–192. Spaeth, G.L. and Barber, G.W. (1967): Prevalence of homocystinuria among the mentally retarded. Evaluation of a specific screening test. Pediatrics, 40, 586–589. Pullon, D.D.H. (1980): Homocystinuria and other methionemias. In: Neonatal Screening for Inborn Errors of Metabolism, pp. 29–44. Editors: H. Bickel, R. Guthrie and G. Hammersen. Springer Verlag, New York. Watanabe, T., Kuroda, Y., Naito, E. et al. (1987): Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency. Eur. J. Pediatr., 146, 436–438. Levy, H.L., Shih, V.E. and Macready, R.A. (1971): Screening for homocystinuria in the newborn and mentally retarded population. In: Inherited Disorders of Sulphur Metabolism. pp. 235–243. Editors: N.A.J. Carson and D.N. Raine. Churchill Livingstone, Edinburgh and London. Gaull, G.E., von Berg, W., Raihia, N.C.R. and Sturman, S.A. (1973): Development of methyltransferase activities of human fetal tissues. Pediatr. Res., 7, 527–533. Sternowsky, H.J., Raihia, N.C.R. and Gaull, G. (1977): Methionine adenosyltransferase and transmethylation in fetal and neonatal lung of the human, monkey and rat. Pediatr. Res., 10, 545–550.