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253 related items for PubMed ID: 17196380

  • 1. [Canavan disease or N-acetyl aspartic aciduria: a case report].
    Boughamoura L, Chaabane F, Tilouche S, Chabchoub I, Kabachi N, Tlili K, Yacoub M, Essoussi AS.
    Arch Pediatr; 2007 Feb; 14(2):173-6. PubMed ID: 17196380
    [Abstract] [Full Text] [Related]

  • 2. [Megalencephaly with dystonia revealing Canavan disease].
    Maaloul I, Fourati H, Wali M, Chabchoub I, Kamoun T, Mnif Z, Kaabachi N, Hachicha M.
    Arch Pediatr; 2013 Jul; 20(7):783-6. PubMed ID: 23727372
    [Abstract] [Full Text] [Related]

  • 3. Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease.
    Aydinli N, Calişkan M, Calay M, Ozmen M.
    Turk J Pediatr; 1998 Jul; 40(4):549-57. PubMed ID: 10028864
    [Abstract] [Full Text] [Related]

  • 4. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Eke GH, Iscan A, Cece H, Calik M.
    Genet Couns; 2012 Jul; 23(1):9-12. PubMed ID: 22611636
    [Abstract] [Full Text] [Related]

  • 5. Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.
    Zafeiriou DI, Kleijer WJ, Maroupoulos G, Anastasiou AL, Augoustidou-Savvopoulou P, Papadopoulou F, Kontopoulos EE, Fagan E, Payne S.
    Brain Dev; 1999 Apr; 21(3):205-8. PubMed ID: 10372908
    [Abstract] [Full Text] [Related]

  • 6. Atypical MRI findings in Canavan disease: a patient with a mild course.
    Yalcinkaya C, Benbir G, Salomons GS, Karaarslan E, Rolland MO, Jakobs C, van der Knaap MS.
    Neuropediatrics; 2005 Oct; 36(5):336-9. PubMed ID: 16217711
    [Abstract] [Full Text] [Related]

  • 7. [Canavan disease].
    Harting I, Seitz A.
    Rofo; 2001 Oct; 173(10):M275-6. PubMed ID: 11710318
    [No Abstract] [Full Text] [Related]

  • 8. Canavan disease: a review of recent developments.
    Gordon N.
    Eur J Paediatr Neurol; 2001 Oct; 5(2):65-9. PubMed ID: 11589315
    [Abstract] [Full Text] [Related]

  • 9. [Magnetic resonance tomography and localized proton spectroscopy in 2 siblings with Canavan's disease].
    Engelbrecht V, Rassek M, Gärtner J, Kahn T, Mödder U.
    Rofo; 1995 Sep; 163(3):238-44. PubMed ID: 7548871
    [Abstract] [Full Text] [Related]

  • 10. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
    Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J.
    Am J Med Genet; 1988 Feb; 29(2):463-71. PubMed ID: 3354621
    [Abstract] [Full Text] [Related]

  • 11. [N-acetylaspartic aciduria. Clinical, biological and physiopathological study].
    Gay C, Divry P, Macabeo V, Gilly R.
    Arch Fr Pediatr; 1991 Feb; 48(6):409-13. PubMed ID: 1929728
    [Abstract] [Full Text] [Related]

  • 12. N-acetylaspartic aciduria in Canavan disease: another proof in two infants.
    Yalaz K, Topçu M, Topaloğlu H, Gürçay O, Ozcan OE, Onol B, Renda Y.
    Neuropediatrics; 1990 Aug; 21(3):140-2. PubMed ID: 2234319
    [Abstract] [Full Text] [Related]

  • 13. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
    Di Pietro V, Cavallari U, Amorini AM, Lazzarino G, Longo S, Poggiani C, Cavalli P, Tavazzi B.
    Clin Biochem; 2013 Dec; 46(18):1902-4. PubMed ID: 24036223
    [Abstract] [Full Text] [Related]

  • 14. Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry.
    Inoue Y, Kuhara T.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2004 Jun 25; 806(1):33-9. PubMed ID: 15149608
    [Abstract] [Full Text] [Related]

  • 15. Radiological clue to diagnosis of Canavan disease.
    Sreenivasan P, Purushothaman KK.
    Indian J Pediatr; 2013 Jan 25; 80(1):75-7. PubMed ID: 22660905
    [Abstract] [Full Text] [Related]

  • 16. A case of Canavan disease with microcephaly.
    Gowda VK, Bhat MD, Srinivasan VM, Prasad C, Benakappa A, Faruq M.
    Brain Dev; 2016 Sep 25; 38(8):759-62. PubMed ID: 26992473
    [Abstract] [Full Text] [Related]

  • 17. Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria.
    Echenne B, Divry P, Vianey-Liaud C.
    Neuropediatrics; 1989 May 25; 20(2):79-81. PubMed ID: 2739878
    [Abstract] [Full Text] [Related]

  • 18. Lithium citrate for Canavan disease.
    Janson CG, Assadi M, Francis J, Bilaniuk L, Shera D, Leone P.
    Pediatr Neurol; 2005 Oct 25; 33(4):235-43. PubMed ID: 16194720
    [Abstract] [Full Text] [Related]

  • 19. Early diagnosis of Canavan syndrome: how can we get there?
    De Bernardo G, Giordano M, Sordino D, Buono S.
    BMJ Case Rep; 2015 Aug 05; 2015():. PubMed ID: 26245283
    [Abstract] [Full Text] [Related]

  • 20. Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI.
    Janson CG, McPhee SW, Francis J, Shera D, Assadi M, Freese A, Hurh P, Haselgrove J, Wang DJ, Bilaniuk L, Leone P.
    Neuropediatrics; 2006 Aug 05; 37(4):209-21. PubMed ID: 17177147
    [Abstract] [Full Text] [Related]

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