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Journal Abstract Search

183 related items for PubMed ID: 8577060

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

  • 2. [Lysosomal transport disorders: cystinosis and sialic acid storage disorders].
    Eto Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Dec; (19 Pt 2):601-5. PubMed ID: 9645145
    [No Abstract] [Full Text] [Related]

  • 3. 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; 23(4):462-5. PubMed ID: 10581036
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  • 4. 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]

  • 5. [Cystinosis and Salla disease].
    Narisawa K.
    Tanpakushitsu Kakusan Koso; 1988 Apr 03; 33(5):839-42. PubMed ID: 3270900
    [No Abstract] [Full Text] [Related]

  • 6. [Cystinosis].
    Watanabe H, Kamoshita S.
    Nihon Rinsho; 1992 Jul 03; 50(7):1593-8. PubMed ID: 1404889
    [Abstract] [Full Text] [Related]

  • 7. Disorders of lysosomal membrane transport--cystinosis and Salla disease.
    Gahl WA.
    Enzyme; 1987 Jul 03; 38(1-4):154-60. PubMed ID: 3326729
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  • 10. [Cystinosis--an orphan disease. Pathogenesis and current treatment].
    Zachwieja J.
    Przegl Lek; 2006 Jul 03; 63 Suppl 3():29-31. PubMed ID: 16898482
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  • 11. [From gene to disease: cystinosis].
    Levtchenko EN, Wilmer M, de Graaf-Hess AC, van den Heuvel LP, Blom H, Monnens LA.
    Ned Tijdschr Geneeskd; 2004 Mar 06; 148(10):476-8. PubMed ID: 15042893
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  • 12. 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 Mar 06; 94(2):145-53. PubMed ID: 7992007
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  • 14. Prenatal diagnosis of free sialic acid storage disorders (SASD).
    Aula N, Aula P.
    Prenat Diagn; 2006 Aug 06; 26(8):655-8. PubMed ID: 16715535
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  • 18. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.
    Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI.
    Mol Genet Metab; 2000 Aug 06; 71(1-2):100-20. PubMed ID: 11001803
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  • 20. Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.
    Salomäki P, Aula N, Juvonen V, Renlund M, Aula P.
    Prenat Diagn; 2001 May 06; 21(5):354-8. PubMed ID: 11360275
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