Screening for Inherited Metabolic Disease

American Academy of Pediatrics. Nutritional management in hereditary metabolic disease. Pediatrics 40 (1967) 289.

Armstrong M. D. Shaw K. N. Robinson K. S. Studies on phenylketonuria. II. The excretion of ortho hydroxyphenyl acetic acid in phenylketonuria J. biol. Chem. 213 (1955) 797.

Bickel H. Gerrard J. Hickmans E. M. Influence of phenylalanine intake on phenylketonuria. Lancet 2 (1953) 812.

Berry H. K. Sutherland B. S. Umbarger B. Detection of phenylketonuria in newborn infants J. Amer. med. Ass. 198 (1966) 1114.

Bessman S. P. Legislation and advances in medical knowledge—acceleration or inhibition? J. Pediat. 69 (1966) 334.

Buist N. R. M. Set of simple side-room urine tests for detection of inborn errors of metabolism Brit. med. J., 2 (1968) 745.

Carson N. J. Neill D. W. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland Arch. Dis. Childh. 37 (1962) 505.

Chang T. M. S. Poznansky M. J. Semipermeable microcapsules containing catalase for enzyme replacement in acatalasaemic mice Nature 218 (1968) 243.

Efron M. L. Young D. Moser H. W. MacCready R. A. A simple chromatographic screening test for the detection of disorders of amino acid metabolism New Engl. J. Med. 270 (1964) 1378.

Friedmann T. Seegmiller J. E. Subak-Sharpe J. H. Metabolic co-operation between genetically marked human fibroblasts in tissue culture Nature 220 (1968) 272.

Guthrie R. Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants Pediatrics 32 (1963) 338.

Hubble D. Congenital adrenal hyperplasia. In Holt K. S. Raine D. N. Basic Concepts of Inborn Errors and Defects of Steroid Biosynthesis Edinburgh, Livingstone (1966) p. 68.

Kay H. E. M. The treatment of immunological deficiency by transplantation. In Holt K. S. Raine D. N. Basic Concepts of Inborn Errors and Defects of Steroid Biosynthesis. Edinburgh, Livingstone, (1966) p. 75.

Kennedy J. L. Wertelecki W. Gates L. Sperry B. P. Cass V. M. The early treatment of phenylketonuria, Amer. J. Dis. Child. 113 (1967), 16.

Komrower G. M. Fowler B. Griffiths M. J. Lambert A. M. A prospective community survey for aminoacidaemias. Proc. roy. Soc. Med. 61 (1968) 294.

Levy H. L. Shih V. E. Madigan P. M. Karolkewicz V. MacCready R. A. Results of a screening method for free aminoacids. I. Whole blood Clin. Biochem. 1 (1968a) 200.

Levy H. L. Shih V. E. Madigan P. M. Karolkewicz V. MacCready R. A. Results of a screening method for free amino acids. II. Urine. Clin. Biochem. 1 (1968b) 208.

Marchioro T. L. Hougie C. Ragde H. Epstein R. B. Thomas E. D. . Hemophilia: rôle of organ homografts Science 163 (1969) 188.

Medical Research Council Working Party on Phenylketonuria. Present status of different mass screening procedures for phenylketonuria, Brit. med. J. 4 (1968) 7.

Migeon B. R. Miller C. S. Human-mouse somatic cell hybrids with single human chromosome (group E): link with thymidine kinase activity Science 162 (1968) 1005.

Nuffield Provincial Hospitals Trust. Screening in Medical Care, London, Oxford Univ. Press (1968).

Perry T. L. Hansen S. MacDougall L. Urinary screening tests in the prevention of mental deficiency Canad. med. Ass. J. 95 (1966) 89.

Scriver C. R. Davies E. Cullen A. M. Application of a simple micromethod to the screeening of plasma for a variety of aminoacidopathies. Lancet 2 (1964) 230.

Waldenström J. The porphyrias as inborn errors of metabolism. Amer. J. Med. 22 (1957) 758.

Woolf L. I. Large-scale screening for metabolic disease in the newborn in Great Britain. In Anderson J. A. Swaiman K. F. Phenylketonuria and Allied Metabolic Diseases. Washington, U.S. Dept. Health, Education and Welfare (1967).

Woolf L. I. Goodwin B. L. Effect of dietary treatment on frequency of phenylketonuria gene. Lancet 1 (1967) 216.

World Health Organisation, Screening for Inborn Errors of Metabolism, Technical Rep. Series 401 (1968) p. 18.