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Journal Abstract Search

145 related items for PubMed ID: 2347341

  • 21.
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  • 22. Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.
    Renlund M, Kovanen PT, Raivio KO, Aula P, Gahmberg CG, Ehnholm C.
    J Clin Invest; 1986 Feb; 77(2):568-74. PubMed ID: 3944269
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  • 25. Sialic acid storage disease.
    Cameron PD, Dubowitz V, Besley GT, Fensom AH.
    Arch Dis Child; 1990 Mar; 65(3):314-5. PubMed ID: 2334213
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  • 26. Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease.
    Mendla K, Baumkötter J, Rosenau C, Ulrich-Bott B, Cantz M.
    Biochem J; 1988 Feb 15; 250(1):261-7. PubMed ID: 2451509
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  • 27. A Japanese case of infantile sialic acid storage disease.
    Nakano C, Hirabayashi Y, Ohno K, Yano T, Mito T, Sakurai M.
    Brain Dev; 1996 Feb 15; 18(2):153-6. PubMed ID: 8733911
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  • 28. 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 15; 36(4):242-9. PubMed ID: 2553307
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  • 29. Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.
    Lake BD, Young EP, Nicolaides K.
    J Inherit Metab Dis; 1989 Oct 15; 12(2):152-6. PubMed ID: 2502674
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  • 31. Urinary sialic acid screening in neurologic disorders.
    Carroll JE, Roesel RA, DuRant RH, Nelson AM, Hartlage PL, Hahn DA, Hommes FA.
    Pediatr Neurol; 1986 Oct 15; 2(2):67-71. PubMed ID: 3508681
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  • 33. 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 15; 20(8):773-7. PubMed ID: 2942833
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  • 34. N-Acetylneuraminic acid storage disease.
    Baumkötter J, Cantz M, Mendla K, Baumann W, Friebolin H, Gehler J, Spranger J.
    Hum Genet; 1985 Aug 15; 71(2):155-9. PubMed ID: 4043964
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  • 38. 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 Aug 15; 94(2):145-53. PubMed ID: 7992007
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  • 39. 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 Aug 15; 15(3):443-53. PubMed ID: 8597831
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  • 40. 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 15; 17(5):307-12. PubMed ID: 6856393
    [Abstract] [Full Text] [Related]

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