Compoond heterozygotes in hyperphenylalaninaemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00291569.pdf
Reference6 articles.
1. Bartholom� K, Lutz P, Bickel H (1975) Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia. Pediat Res 9:899?903
2. Blaskovics ME, Nelson TL (1971) Phenylketonuria and its variations. Calif Med 115:42
3. Kutter D (1979) Offspring of phenylketonuric parents. Br Med J 797
4. Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemia. N Engl J Med 303:1202?1208
5. Trefz FK, Erlenmaier T, Hunnemann DH, Bartholom� K, Lutz P (1979) Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of hepta-deuterophenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography. Clin Chim Acta 99:211?220
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1. In Vitro Indicators of Metabolism of Natural Compounds;Molecular Nuclear Medicine;2003
2. Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations;European Journal of Pediatrics;1991-09
3. Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany;European Journal of Pediatrics;1989-11
4. Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene;Biochemistry;1988-04-19
5. Atypical cases of phenylketonuria;European Journal of Pediatrics;1987
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