BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

269 related articles for article (PubMed ID: 3354621)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
    Divry P; Mathieu M
    Am J Med Genet; 1989 Apr; 32(4):550-1. PubMed ID: 2774002
    [No Abstract]   [Full Text] [Related]  

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

  • 5. Canavan disease: value of N-acetylaspartic aciduria?
    de Coo IF; Bakkeren JA; Gabreëls FJ
    Neuropediatrics; 1991 May; 22(2):III. PubMed ID: 1857492
    [No Abstract]   [Full Text] [Related]  

  • 6. N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.
    Hagenfeldt L; Bollgren I; Venizelos N
    J Inherit Metab Dis; 1987; 10(2):135-41. PubMed ID: 3116332
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency.
    von Moers A; Sperner J; Michael T; Scheffner D; Schutgens RH
    Dev Med Child Neurol; 1991 Sep; 33(9):824-8. PubMed ID: 1936635
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. Biochemical diagnosis of Canavan disease.
    Bartalini G; Margollicci M; Balestri P; Farnetani MA; Cioni M; Fois A
    Childs Nerv Syst; 1992 Dec; 8(8):468-70. PubMed ID: 1288858
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Canavan disease: biochemical and molecular studies.
    Matalon R; Kaul R; Michals K
    J Inherit Metab Dis; 1993; 16(4):744-52. PubMed ID: 8412017
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
    Kaul R; Gao GP; Balamurugan K; Matalon R
    Nat Genet; 1993 Oct; 5(2):118-23. PubMed ID: 8252036
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aspartoacylase deficiency and Canavan disease in Saudi Arabia.
    Ozand PT; Gascon GG; Dhalla M
    Am J Med Genet; 1990 Feb; 35(2):266-8. PubMed ID: 2309767
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Canavan disease: diagnosis and molecular analysis.
    Matalon R
    Genet Test; 1997; 1(1):21-5. PubMed ID: 10464621
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
    Al-Dirbashi OY; Kurdi W; Imtiaz F; Ahmad AM; Al-Sayed M; Tulbah M; Al-Nemer M; Rashed MS
    Prenat Diagn; 2009 May; 29(5):477-80. PubMed ID: 19235826
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A radiometric assay for aspartoacylase activity in human fibroblasts: application for the diagnosis of Canavan's disease.
    Barash V; Flhor D; Morag B; Boneh A; Elpeleg ON; Gilon C
    Clin Chim Acta; 1991 Sep; 201(3):175-81. PubMed ID: 1756590
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease.
    Surendran S
    Med Hypotheses; 2010 Dec; 75(6):533-4. PubMed ID: 20673702
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Protracted clinical course for patients with Canavan disease.
    Zelnik N; Luder AS; Elpeleg ON; Gross-Tsur V; Amir N; Hemli JA; Fattal A; Harel S
    Dev Med Child Neurol; 1993 Apr; 35(4):355-8. PubMed ID: 8335152
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Canavan disease and N-acetylaspartic aciduria.
    Elpeleg ON; Amir N; Barash V; Glick B; Gross-Tsur V; Shachar E; Shapira Y; Tzelnik N
    Neuropediatrics; 1989 Nov; 20(4):238. PubMed ID: 2608171
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 14.