These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

226 related items for PubMed ID: 2514102

  • 1. Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses.
    Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M.
    Eur J Pediatr; 1989 Oct; 149(1):31-9. PubMed ID: 2514102
    [Abstract] [Full Text] [Related]

  • 2. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease.
    Bradová V, Smíd F, Ulrich-Bott B, Roggendorf W, Paton BC, Harzer K.
    Hum Genet; 1993 Sep; 92(2):143-52. PubMed ID: 8370580
    [Abstract] [Full Text] [Related]

  • 3. Immunocytochemical localization of sphingolipid activator protein 2 (SAP-2) in normal and SAP-deficient fibroblasts.
    Paton BC, Hughes JL, Harzer K, Poulos A.
    Eur J Cell Biol; 1990 Feb; 51(1):157-64. PubMed ID: 2109697
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders.
    Schmid B, Paton BC, Sandhoff K, Harzer K.
    Hum Genet; 1992 Jul; 89(5):513-8. PubMed ID: 1634229
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency.
    Rafi MA, de Gala G, Zhang XL, Wenger DA.
    Somat Cell Mol Genet; 1993 Jan; 19(1):1-7. PubMed ID: 8460394
    [Abstract] [Full Text] [Related]

  • 9. Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).
    Oya Y, Nakayasu H, Fujita N, Suzuki K, Suzuki K.
    Acta Neuropathol; 1998 Jul; 96(1):29-40. PubMed ID: 9678511
    [Abstract] [Full Text] [Related]

  • 10. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
    Schnabel D, Schröder M, Sandhoff K.
    FEBS Lett; 1991 Jun 17; 284(1):57-9. PubMed ID: 2060627
    [Abstract] [Full Text] [Related]

  • 11. Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease.
    Tohyama J, Oya Y, Ezoe T, Vanier MT, Nakayasu H, Fujita N, Suzuki K.
    J Inherit Metab Dis; 1999 Jun 17; 22(5):649-62. PubMed ID: 10399097
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
    Hulková H, Cervenková M, Ledvinová J, Tochácková M, Hrebícek M, Poupetová H, Befekadu A, Berná L, Paton BC, Harzer K, Böör A, Smíd F, Elleder M.
    Hum Mol Genet; 2001 Apr 15; 10(9):927-40. PubMed ID: 11309366
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study.
    Schlote W, Harzer K, Christomanou H, Paton BC, Kustermann-Kuhn B, Schmid B, Seeger J, Beudt U, Schuster I, Langenbeck U.
    Eur J Pediatr; 1991 Jun 15; 150(8):584-91. PubMed ID: 1683286
    [Abstract] [Full Text] [Related]

  • 15. Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency.
    Wenger DA, DeGala G, Williams C, Taylor HA, Stevenson RE, Pruitt JR, Miller J, Garen PD, Balentine JD.
    Am J Med Genet; 1989 Jun 15; 33(2):255-65. PubMed ID: 2764035
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo.
    Klein A, Henseler M, Klein C, Suzuki K, Harzer K, Sandhoff K.
    Biochem Biophys Res Commun; 1994 May 16; 200(3):1440-8. PubMed ID: 8185598
    [Abstract] [Full Text] [Related]

  • 18. Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases.
    Inui K, Wenger DA.
    J Clin Invest; 1983 Nov 16; 72(5):1622-8. PubMed ID: 6415115
    [Abstract] [Full Text] [Related]

  • 19. [Phenotypes in heteroglycanoses and sphingolipidoses (author's transl)].
    Gehler J.
    Monatsschr Kinderheilkd; 1981 Nov 16; 129(11):610-20. PubMed ID: 6798422
    [Abstract] [Full Text] [Related]

  • 20. Non-neuronopathic Gaucher disease due to saposin C deficiency.
    Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E.
    Clin Genet; 2007 Dec 16; 72(6):538-42. PubMed ID: 17919309
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.