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Journal Abstract Search

249 related items for PubMed ID: 18846668

  • 21.
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  • 22. Gene symbol: NSD1. Disease: Sotos syndrome.
    Ellison J.
    Hum Genet; 2008 Oct; 124(3):311. PubMed ID: 18846652
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  • 25. Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.
    Toivonen M, Tringham M, Kurko J, Terho P, Simell O, Heiskanen KM, Mykkänen J.
    Gen Physiol Biophys; 2013 Dec; 32(4):479-88. PubMed ID: 23940088
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  • 28. Lysinuric protein intolerance: mechanisms of pathophysiology.
    Palacín M, Bertran J, Chillarón J, Estévez R, Zorzano A.
    Mol Genet Metab; 2004 Apr; 81 Suppl 1():S27-37. PubMed ID: 15050971
    [Abstract] [Full Text] [Related]

  • 29. Gene symbol: CHD7. Disease: CHARGE syndrome.
    Ellison J.
    Hum Genet; 2008 Oct; 124(3):323. PubMed ID: 18846688
    [No Abstract] [Full Text] [Related]

  • 30. Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus.
    Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.
    Hum Genet; 2008 Oct; 124(3):298. PubMed ID: 18846619
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  • 31. Gene symbol: CHM. Disease: Choroideraemia.
    Villaverde C, Trujillo-Tiebas MJ, López-Martinez MA, Giménez-Pardo A, Cantalapiedra D, Vallespin E, García-Hoyos M, Ayuso C.
    Hum Genet; 2008 Oct; 124(3):302. PubMed ID: 18846629
    [No Abstract] [Full Text] [Related]

  • 32. Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome.
    Maines E, Comberiati P, Piacentini GL, Boner AL, Peroni DG.
    Pediatr Allergy Immunol; 2013 Aug; 24(5):509-10. PubMed ID: 23772603
    [No Abstract] [Full Text] [Related]

  • 33. Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
    Toivonen M, Mykkänen J, Aula P, Simell O, Savontaus ML, Huoponen K.
    Biochem Biophys Res Commun; 2002 Mar 15; 291(5):1173-9. PubMed ID: 11883940
    [Abstract] [Full Text] [Related]

  • 34. Hyperammonemia in lysinuric protein intolerance.
    Kato T, Mizutani N, Ban M.
    Pediatrics; 1984 Apr 15; 73(4):489-92. PubMed ID: 6424086
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  • 37. Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus.
    Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.
    Hum Genet; 2008 Oct 15; 124(3):298. PubMed ID: 18846618
    [No Abstract] [Full Text] [Related]

  • 38. Breast milk and gene delivery: is lysinuric protein intolerance an exemplar?
    Boyd CA, Shennan DB.
    Mol Genet Metab; 2010 Oct 15; 101(2-3):296. PubMed ID: 20674423
    [No Abstract] [Full Text] [Related]

  • 39. Leukocyte and liver glutaminase in lysinuric protein intolerance.
    Simell O, Perheentupa J, Visakorpi JK.
    Pediatr Res; 1972 Oct 15; 6(10):797-801. PubMed ID: 4648974
    [No Abstract] [Full Text] [Related]

  • 40. Gene symbol: GCDH. Disease: Glutaricacidaemia I.
    Lin WD, Hwu WL, Wang CH, Chen CP, Tsai FJ.
    Hum Genet; 2008 Jun 15; 123(5):551-2. PubMed ID: 20960650
    [No Abstract] [Full Text] [Related]

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