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Journal Abstract Search

273 related items for PubMed ID: 11696894

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  • 5. [Molecular genetic aspects of phenylketonuria (PKU)].
    Giltay JC, van Hoef AM, de Weger R, Duran M, Berger R, Beemer FA.
    Tijdschr Kindergeneeskd; 1991 Jun; 59(3):77-80. PubMed ID: 1677790
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  • 6. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
    Kleiman S, Bernstein J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y.
    Hum Mutat; 1992 Jun; 1(4):340-3. PubMed ID: 1301942
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  • 9. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
    Kasnauskiene J, Cimbalistiene L, Kucinskas V.
    Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
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  • 10. The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
    Zschocke J, Preusse A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I.
    Hum Mutat; 2003 Apr; 21(4):399. PubMed ID: 12655552
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  • 11. [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
    Zhang J, Meng J, Zhai X, Fang G, Gao J, Shi M, Wang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771
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  • 12. Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
    Eisensmith RC, Woo SL.
    Hum Mutat; 1992 Apr; 1(1):13-23. PubMed ID: 1301187
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  • 13. Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
    Ramus SJ, Forrest SM, Cotton RG.
    Hum Mutat; 1992 Apr; 1(2):154-8. PubMed ID: 1301202
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  • 14. Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.
    Nicolini H, Cruz C, Camarena B, Fernanda Merino M, Bilbao G, Vela M, Velázquez A, Pérez B, Desviat L, Ugarte M.
    Arch Med Res; 1995 Apr; 26(1):53-7. PubMed ID: 7711448
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  • 15. Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients.
    Fan GX, Qing LX, Jun Y, Mei Z.
    Southeast Asian J Trop Med Public Health; 1999 Apr; 30 Suppl 2():63-5. PubMed ID: 11400788
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  • 16. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.
    Stojiljkovic M, Jovanovic J, Djordjevic M, Grkovic S, Cvorkov Drazic M, Petrucev B, Tosic N, Karan Djurasevic T, Stojanov L, Pavlovic S.
    Clin Genet; 2006 Aug; 70(2):151-5. PubMed ID: 16879198
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  • 17. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
    Acosta A, Silva W, Carvalho T, Gomes M, Zago M.
    Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
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  • 20. Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?
    Dworniczak B, Kalaydjieva L, Pankoke S, Aulehla-Scholz C, Allen G, Horst J.
    Hum Mutat; 1992 Feb; 1(2):138-46. PubMed ID: 1363786
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