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Journal Abstract Search

117 related items for PubMed ID: 13685529

  • 1. [Familial amino acid metabolic disorders (alkaptonuria, phenylpyruvic oligophrenia. congenital cataract in the same family)].
    BABEL J, BAMATTER F, COURVOISIER B, FRANCESCHETTI A, KLEIN D, LAPINE A.
    Schweiz Med Wochenschr; 1960 Aug 13; 90():863-6. PubMed ID: 13685529
    [No Abstract] [Full Text] [Related]

  • 2. [Contribution of 2 cases of familial phenylpyruvic oligophrenia].
    SANCHEZ VILLARES E.
    Rev Esp Pediatr; 1960 Aug 13; 16():341-63. PubMed ID: 14441338
    [No Abstract] [Full Text] [Related]

  • 3. [Phenylpyruvic oligophrenia and tyrosinosis. Biochemical research on one family (apropos of a family originally from a village in Southern Italy)].
    Accomando F, Giacanelli M.
    Policlinico Prat; 1967 Jul 10; 74(28):939-46. PubMed ID: 5606267
    [No Abstract] [Full Text] [Related]

  • 4. [Biochemical and genetic aspects of phenylpyruvic acid oligophrenia].
    Neĭfakh SA, Shaposhnikov AM.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1965 Jul 10; 65(7):1104-13. PubMed ID: 5329252
    [No Abstract] [Full Text] [Related]

  • 5. [A combination of familial spastic paralysis, congenital cataract and oligophrenia].
    Miftakhova AS.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1970 Jul 10; 70(7):972-8. PubMed ID: 5532998
    [No Abstract] [Full Text] [Related]

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  • 7. [Problems in the field of phenylpyruvic oligophrenia. 1. Effectiveness of low-phenylalanine diet. 2. Usefulness of the phenylalanine tolerance test for the study of the genetics of the disease].
    SEGNI G.
    Minerva Pediatr; 1960 Aug 25; 12():946-8. PubMed ID: 13749691
    [No Abstract] [Full Text] [Related]

  • 8. [Phenylpyruvic oligophrenia in 1st cousins (contribution to the national cases)].
    Calcedo Ordóñez A, Fornell Forcadas J.
    Arch Neurobiol (Madr); 1970 Aug 25; 33(3):261-71. PubMed ID: 5496214
    [No Abstract] [Full Text] [Related]

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  • 10. [DETERMINATION OF PHENYLPYRUVIC ACID (PPA) IN THE URINE OF PATIENTS WITH PHENYLPYRUVIC OLIGOPHRENIA (PHENYLKETONURIA)].
    DODINVAL-VERSIE J.
    J Pharm Belg; 1963 Aug 25; 18():352-65. PubMed ID: 14067935
    [No Abstract] [Full Text] [Related]

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  • 12. [Clinical data on familial phenylpyruvic oligophrenia].
    YASSE L.
    Acta Paediatr Belg; 1959 Aug 25; 13(2):86-102. PubMed ID: 13660828
    [No Abstract] [Full Text] [Related]

  • 13. R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
    Abdulrazzaq YM, Ibrahim A, Al-Khayat AI, Nagelkerke N, Ali BR.
    Ann Hum Genet; 2009 Jan 25; 73(1):125-30. PubMed ID: 18945288
    [Abstract] [Full Text] [Related]

  • 14. [Alkaptonuria and severe lithiasic syndrome. Familial study].
    López Sánchez A, Benítez Rivero A, Berral Domínguez A, Rodríguez-Rubio F.
    Rev Clin Esp; 1971 Nov 30; 123(4):369-74. PubMed ID: 5157920
    [No Abstract] [Full Text] [Related]

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  • 16. The birthplaces of parents and grandparents of a series of patients with phenylketonuria in in south-east England.
    CARTER CO, WOOLF LI.
    Ann Hum Genet; 1961 May 30; 25():57-64. PubMed ID: 13691132
    [No Abstract] [Full Text] [Related]

  • 17. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
    Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC.
    Hum Mutat; 2007 Oct 30; 28(10):968-77. PubMed ID: 17492639
    [Abstract] [Full Text] [Related]

  • 18. Report about a Beduin family affected by alkaptonuria.
    HENDEL H, BEN-ASSA BJ.
    Ann Paediatr; 1960 Aug 30; 195():77-87. PubMed ID: 13713246
    [No Abstract] [Full Text] [Related]

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  • 20. A family with alkaptonuria showing quasidominant inheritance.
    de Silva AP, Seneviratne SL, Gunatilake SB, Fonseka M, Jayasekera R, de Silva HJ.
    Ceylon Med J; 1999 Sep 30; 44(3):130-2. PubMed ID: 10675999
    [No Abstract] [Full Text] [Related]

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