The incidence and characterization of phenylketonuric patients in Estonia

Journal of Inherited Metabolic Disease

Volumn 19, Issue 3, 1996, Pages 381-382

  Ounap K ^a,b   Lillevali H ^a   Klaassen, T ^a   Metspalu, A ^a   Sitska, M ^a  

^a UNIVERSITY OF TARTU   (Estonia)

^b Tartu University Children's Hospital   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; FEMALE; FLUOROMETRY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; NEWBORN SCREENING; PHENYLKETONURIA; RETROSPECTIVE STUDY; USSR;

ESTONIA; FEMALE; HUMANS; INCIDENCE; MALE; PHENYLKETONURIAS;

EID: 0029931260     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799278     Document Type: Article

References (4)

1. DiLella AG, Marvit J, Brayton K, Woo SLC (1987) An aminoacid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327: 799-803.
2. Eisensmith RC, Golstov AA, O'Neill C, et al (1995) Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am J Hum Genet 56: 278-286.
3. McCaman M, Robins E (1962) Fluorimeiric method for the determination of phenylalanine in serum. J Lab Clin Med 59: 885-890.
4. Scriver CR. Kaufman S, Eisensmith RC, Woo SLC (1995) The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1015-1075.