메뉴 건너뛰기




Volumn 5, Issue 1, 1998, Pages 22-23

Development of the phenylketonuria screening programme in Estonia

Author keywords

Metabolic error; Neonatal screening; Phenylketonuria

Indexed keywords

ARTICLE; CLINICAL ARTICLE; ESTONIA; FEMALE; FLUOROMETRY; HEALTH PROGRAM; HUMAN; INCIDENCE; MALE; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA;

EID: 0031775672     PISSN: 09691413     EISSN: None     Source Type: Journal    
DOI: 10.1136/jms.5.1.22     Document Type: Article
Times cited : (11)

References (10)
  • 2
    • 0027194050 scopus 로고
    • Twenty-five years experience with newborn screening for phenylketonuria in Poland
    • Cabalska B, Nowaczewska I, Duczynska N, Laskowska-Klita T. Twenty-five years experience with newborn screening for phenylketonuria in Poland. Screening 1993;2: 29-32.
    • (1993) Screening , vol.2 , pp. 29-32
    • Cabalska, B.1    Nowaczewska, I.2    Duczynska, N.3    Laskowska-Klita, T.4
  • 3
    • 33744902388 scopus 로고
    • Phenylketonuria screening in Moscow using a microplate fluoromethric method
    • Gerassimova NS, Samutin AA, Steklova IV, Tuuminen T. Phenylketonuria screening in Moscow using a microplate fluoromethric method. Screening 1992;1:27-35.
    • (1992) Screening , vol.1 , pp. 27-35
    • Gerassimova, N.S.1    Samutin, A.A.2    Steklova, I.V.3    Tuuminen, T.4
  • 4
    • 0028224248 scopus 로고
    • Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients
    • Kucinskas V, Jurgelevicius V, Cimbalistiene L, Holmgren G. Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients. Hum Hered 1994;44:110-13.
    • (1994) Hum Hered , vol.44 , pp. 110-113
    • Kucinskas, V.1    Jurgelevicius, V.2    Cimbalistiene, L.3    Holmgren, G.4
  • 5
    • 1542560237 scopus 로고
    • Fluorimetric method for the determination of phenylalanine in serum
    • McCaman M, Robins E. Fluorimetric method for the determination of phenylalanine in serum. J Lab Clin Med 1962; 59:885-90.
    • (1962) J Lab Clin Med , vol.59 , pp. 885-890
    • McCaman, M.1    Robins, E.2
  • 6
    • 0027533685 scopus 로고
    • Recommendations on the dietary management of phenylketonuria
    • Medical Reseach Council Working Party on Phenylketonuria. Recommendations on the dietary management of phenylketonuria. Arch Dis Child 1993;68:426-7.
    • (1993) Arch Dis Child , vol.68 , pp. 426-427
  • 9
    • 0029957452 scopus 로고    scopus 로고
    • Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes
    • Lilleväli H, Ōunap K, Metspalu A. Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. Eur J Hum Genet 1996;4: 296-300.
    • (1996) Eur J Hum Genet , vol.4 , pp. 296-300
    • Lilleväli, H.1    Ounap, K.2    Metspalu, A.3
  • 10
    • 0023181265 scopus 로고
    • An aminoacid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2
    • DiLella AG, Marvit J, Brayton K, Woo SLC. An aminoacid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 1987;327: 799-803.
    • (1987) Nature , vol.327 , pp. 799-803
    • DiLella, A.G.1    Marvit, J.2    Brayton, K.3    Woo, S.L.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.