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Journal Abstract Search

188 related items for PubMed ID: 15172001

  • 1. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
    Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA.
    Mol Genet Metab; 2004 Jun; 82(2):137-43. PubMed ID: 15172001
    [Abstract] [Full Text] [Related]

  • 2. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
    Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA.
    Am J Med Genet A; 2003 Jul 01; 120A(1):28-33. PubMed ID: 12794688
    [Abstract] [Full Text] [Related]

  • 3. Prenatal diagnosis of free sialic acid storage disorders (SASD).
    Aula N, Aula P.
    Prenat Diagn; 2006 Aug 01; 26(8):655-8. PubMed ID: 16715535
    [Abstract] [Full Text] [Related]

  • 4. Novel form of intermediate salla disease: clinical and neuroimaging features.
    Morse RP, Kleta R, Alroy J, Gahl WA.
    J Child Neurol; 2005 Oct 01; 20(10):814-6. PubMed ID: 16417876
    [Abstract] [Full Text] [Related]

  • 5. A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.
    Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS.
    Mol Genet Metab; 2004 Jun 01; 82(2):167-72. PubMed ID: 15172005
    [Abstract] [Full Text] [Related]

  • 6. Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.
    Aula N, Jalanko A, Aula P, Peltonen L.
    Mol Genet Metab; 2002 Jun 01; 77(1-2):99-107. PubMed ID: 12359136
    [Abstract] [Full Text] [Related]

  • 7. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
    Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M.
    Orphanet J Rare Dis; 2017 Feb 10; 12(1):28. PubMed ID: 28187749
    [Abstract] [Full Text] [Related]

  • 8. Free sialic acid storage disorder: Progress and promise.
    Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA, FSASD Consortium.
    Neurosci Lett; 2021 Jun 11; 755():135896. PubMed ID: 33862140
    [Abstract] [Full Text] [Related]

  • 9. Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
    Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M.
    Neurogenetics; 2005 Dec 11; 6(4):195-9. PubMed ID: 16170568
    [Abstract] [Full Text] [Related]

  • 10. A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
    Barmherzig R, Bullivant G, Cordeiro D, Sinasac DS, Blaser S, Mercimek-Mahmutoglu S.
    Pediatr Neurol; 2017 Sep 11; 74():87-91.e2. PubMed ID: 28662915
    [Abstract] [Full Text] [Related]

  • 11. An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
    Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM.
    Clin Genet; 2002 Jun 11; 61(6):443-7. PubMed ID: 12121352
    [Abstract] [Full Text] [Related]

  • 12. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
    Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM.
    Nat Genet; 1999 Dec 11; 23(4):462-5. PubMed ID: 10581036
    [Abstract] [Full Text] [Related]

  • 13. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
    Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA.
    Am J Med Genet A; 2003 Jul 01; 120A(1):23-7. PubMed ID: 12794687
    [Abstract] [Full Text] [Related]

  • 14. Varied mechanisms underlie the free sialic acid storage disorders.
    Wreden CC, Wlizla M, Reimer RJ.
    J Biol Chem; 2005 Jan 14; 280(2):1408-16. PubMed ID: 15516337
    [Abstract] [Full Text] [Related]

  • 15. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
    Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L.
    Am J Hum Genet; 2000 Oct 14; 67(4):832-40. PubMed ID: 10947946
    [Abstract] [Full Text] [Related]

  • 16. Sialin expression in the CNS implicates extralysosomal function in neurons.
    Aula N, Kopra O, Jalanko A, Peltonen L.
    Neurobiol Dis; 2004 Mar 14; 15(2):251-61. PubMed ID: 15006695
    [Abstract] [Full Text] [Related]

  • 17. The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.
    Couce ML, Macías-Vidal J, Castiñeiras DE, Bóveda MD, Fraga JM, Fernández-Marmiesse A, Coll MJ.
    Eur J Med Genet; 2014 Sep 14; 57(9):527-31. PubMed ID: 24993898
    [Abstract] [Full Text] [Related]

  • 18. Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
    Žigman T, Petković Ramadža D, Lušić M, Zekušić M, Ninković D, Gardijan D, Potočki K, Omerza L, Beljan L, Žarković K, Kerkhof J, Ljubojević M, de Sain-van der Velden M, Vuković J, Fumić K, Sadiković B, Barić I.
    J Pediatr Endocrinol Metab; 2018 Oct 25; 31(10):1155-1159. PubMed ID: 30243016
    [Abstract] [Full Text] [Related]

  • 19. Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.
    Ruivo R, Sharifi A, Boubekeur S, Morin P, Anne C, Debacker C, Graziano JC, Sagné C, Gasnier B.
    Biol Cell; 2008 Sep 25; 100(9):551-9. PubMed ID: 18399798
    [Abstract] [Full Text] [Related]

  • 20. Sialic acid storage disease and related disorders.
    Strehle EM.
    Genet Test; 2003 Sep 25; 7(2):113-21. PubMed ID: 12885332
    [Abstract] [Full Text] [Related]

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