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Journal Abstract Search

249 related items for PubMed ID: 18846668

  • 1. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M, Nunes V.
    Hum Genet; 2008 Oct; 124(3):317. PubMed ID: 18846668
    [No Abstract] [Full Text] [Related]

  • 2. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M.
    Hum Genet; 2008 Oct; 124(3):317. PubMed ID: 18846669
    [No Abstract] [Full Text] [Related]

  • 3. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M.
    Hum Genet; 2008 Oct; 124(3):317. PubMed ID: 18846670
    [No Abstract] [Full Text] [Related]

  • 4. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M.
    Hum Genet; 2008 Oct; 124(3):318. PubMed ID: 18846671
    [No Abstract] [Full Text] [Related]

  • 5. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M, Nunes V.
    Hum Genet; 2008 Oct; 124(3):318-9. PubMed ID: 18846673
    [No Abstract] [Full Text] [Related]

  • 6. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M, Nunes V.
    Hum Genet; 2008 Oct; 124(3):318. PubMed ID: 18846672
    [No Abstract] [Full Text] [Related]

  • 7. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
    Sperandeo MP, Andria G, Sebastio G.
    Hum Mutat; 2008 Jan; 29(1):14-21. PubMed ID: 17764084
    [Abstract] [Full Text] [Related]

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  • 13. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A.
    Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846632
    [No Abstract] [Full Text] [Related]

  • 14. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A.
    Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846631
    [No Abstract] [Full Text] [Related]

  • 15. Gene symbol: COL4A5. Disease: Alport Syndrome.
    Savige J, Tan R, Colville D, Wang Y, Parkin JD, Mathew N, Savige J.
    Hum Genet; 2008 Oct; 124(3):301. PubMed ID: 18846626
    [No Abstract] [Full Text] [Related]

  • 16. Gene symbol: PYGM. Disease: McArdle disease.
    Viétez I, Teijeira S, San Millán B, Navarro C.
    Hum Genet; 2008 Oct; 124(3):307. PubMed ID: 18846641
    [No Abstract] [Full Text] [Related]

  • 17. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
    Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G.
    Hum Mutat; 2002 Nov; 20(5):375-81. PubMed ID: 12402335
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  • 18. First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.
    Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V.
    J Appl Genet; 2007 Nov; 48(3):277-80. PubMed ID: 17666782
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  • 20. Early-onset hepatic fibrosis in lysinuric protein intolerance.
    Shinawi M, Dietzen DJ, White FV, Sprietsma L, Weymann A.
    J Pediatr Gastroenterol Nutr; 2011 Dec; 53(6):695-8. PubMed ID: 21716135
    [No Abstract] [Full Text] [Related]

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