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Journal Abstract Search

233 related items for PubMed ID: 7573152

  • 1. 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
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  • 2. Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
    Mancini GM, Beerens CE, Aula PP, Verheijen FW.
    J Clin Invest; 1991 Apr 31; 87(4):1329-35. PubMed ID: 2010546
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  • 3. 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
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  • 7. 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 03; 17(5):307-12. PubMed ID: 6856393
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  • 8. Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts.
    Paschke E, Höfler G, Roscher A.
    Pediatr Res; 1986 Aug 03; 20(8):773-7. PubMed ID: 2942833
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  • 10. [Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
    Yano T, Ohno K.
    Nihon Rinsho; 1995 Dec 03; 53(12):3068-71. PubMed ID: 8577060
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  • 11. [Genetic disorders of N-acetylneuraminic acid metabolism: sialurias and sialidoses].
    Strecker G.
    C R Seances Soc Biol Fil; 1985 Dec 03; 179(5):567-76. PubMed ID: 2938684
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  • 12. Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.
    Hancock LW, Thaler MM, Horwitz AL, Dawson G.
    J Neurochem; 1982 Mar 03; 38(3):803-9. PubMed ID: 7057193
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  • 13. 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
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  • 14. Nephrosis in two siblings with infantile sialic acid storage disease.
    Sperl W, Gruber W, Quatacker J, Monnens L, Thoenes W, Fink FM, Paschke E.
    Eur J Pediatr; 1990 Apr 19; 149(7):477-82. PubMed ID: 2347341
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  • 17. Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease.
    Seppala R, Renlund M, Bernardini I, Tietze F, Gahl WA.
    Lab Invest; 1990 Aug 19; 63(2):197-203. PubMed ID: 2381164
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