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121 related items for PubMed ID: 8597831

  • 1. Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.
    Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Kahler SG.
    Pediatr Pathol Lab Med; 1995; 15(3):443-53. PubMed ID: 8597831
    [Abstract] [Full Text] [Related]

  • 2. The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.
    Sewell AC, Poets CF, Degen I, Stöss H, Pontz BF.
    Am J Med Genet; 1996 May 03; 63(1):203-8. PubMed ID: 8723111
    [Abstract] [Full Text] [Related]

  • 3. Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings.
    Elleder M, Kraus J, Kodet R.
    Sb Lek; 1993 May 03; 94(2):145-53. PubMed ID: 7992007
    [Abstract] [Full Text] [Related]

  • 4. A Japanese case of infantile sialic acid storage disease.
    Nakano C, Hirabayashi Y, Ohno K, Yano T, Mito T, Sakurai M.
    Brain Dev; 1996 May 03; 18(2):153-6. PubMed ID: 8733911
    [Abstract] [Full Text] [Related]

  • 5. Clinical spectrum of infantile free sialic acid storage disease.
    Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M.
    Am J Med Genet; 1999 Feb 19; 82(5):385-91. PubMed ID: 10069709
    [Abstract] [Full Text] [Related]

  • 6. Infantile sialic acid storage disease: biochemical studies.
    Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B.
    Am J Med Genet; 1995 Jul 31; 58(1):24-31. PubMed ID: 7573152
    [Abstract] [Full Text] [Related]

  • 7. Sialic acid storage disorders: observations on clinical and biochemical variation.
    Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P.
    Dev Neurosci; 1991 Jul 31; 13(4-5):327-30. PubMed ID: 1817039
    [Abstract] [Full Text] [Related]

  • 8. Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.
    Paschke E, Gruber W, Ring E, Sperl W.
    J Inherit Metab Dis; 1992 Jul 31; 15(1):47-56. PubMed ID: 1583876
    [Abstract] [Full Text] [Related]

  • 9. [Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
    Yano T, Ohno K.
    Nihon Rinsho; 1995 Dec 31; 53(12):3068-71. PubMed ID: 8577060
    [Abstract] [Full Text] [Related]

  • 10. Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.
    Kang E, Kim YM, Heo SH, Jung E, Kim KS, Yoo HJ, Kim EN, Kim CJ, Kim GH, Lee BH.
    Clin Chim Acta; 2018 Jul 31; 482():199-202. PubMed ID: 29654786
    [Abstract] [Full Text] [Related]

  • 11. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.
    Tietze F, Seppala R, Renlund M, Hopwood JJ, Harper GS, Thomas GH, Gahl WA.
    J Biol Chem; 1989 Sep 15; 264(26):15316-22. PubMed ID: 2768266
    [Abstract] [Full Text] [Related]

  • 12. Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease.
    Nagatsuka Y, Nakano C, Nemoto N, Jike T, Ono Y, Hirabayashi Y.
    Biochim Biophys Acta; 1998 Jul 23; 1381(2):123-30. PubMed ID: 9685606
    [Abstract] [Full Text] [Related]

  • 13. 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 23; 82(2):137-43. PubMed ID: 15172001
    [Abstract] [Full Text] [Related]

  • 14. Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.
    Thomas GH, Scocca J, Miller CS, Reynolds L.
    Clin Genet; 1989 Oct 23; 36(4):242-9. PubMed ID: 2553307
    [Abstract] [Full Text] [Related]

  • 15. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.
    Stevenson RE, Lubinsky M, Taylor HA, Wenger DA, Schroer RJ, Olmstead PM.
    Pediatrics; 1983 Oct 23; 72(4):441-9. PubMed ID: 6889058
    [Abstract] [Full Text] [Related]

  • 16. Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case).
    Poulain P, Odent S, Maire I, Milon J, Proudhon JF, Jouan H, Le Marec B.
    Prenat Diagn; 1995 Sep 23; 15(9):864-7. PubMed ID: 8559759
    [Abstract] [Full Text] [Related]

  • 17. The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
    Paschke E, Höfler G, Roscher A.
    J Inherit Metab Dis; 1987 Sep 23; 10(1):48-51. PubMed ID: 3106716
    [Abstract] [Full Text] [Related]

  • 18. Infantile type of sialic acid storage disease with sialuria.
    Paschke E, Trinkl G, Erwa W, Pavelka M, Mutz I, Roscher A.
    Clin Genet; 1986 May 23; 29(5):417-24. PubMed ID: 3742847
    [Abstract] [Full Text] [Related]

  • 19. Placental electron microscopy and histochemistry in a case of sialic acid storage disorder.
    Jauniaux E, Vamos E, Libert J, Elkhazen N, Wilkin P, Hustin J.
    Placenta; 1987 May 23; 8(4):433-42. PubMed ID: 3684971
    [Abstract] [Full Text] [Related]

  • 20. Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.
    Thomas GH, Scocca J, Libert J, Vamos E, Miller CS, Reynolds LW.
    Pediatr Res; 1983 May 23; 17(5):307-12. PubMed ID: 6856393
    [Abstract] [Full Text] [Related]

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