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    Results: 12

    1.

    The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

    Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J.

    J Korean Med Sci. 2012 Aug;27(8):961-4. doi: 10.3346/jkms.2012.27.8.961. Epub 2012 Jul 25.

    PMID:
    22876067
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    2.

    Creatine metabolism in urea cycle defects.

    Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C.

    J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30.

    PMID:
    22644604
    [PubMed - indexed for MEDLINE]

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    3.

    Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells.

    Verzola D, Famà A, Villaggio B, Di Rocco M, Simonato A, D'Amato E, Gianiorio F, Garibotto G.

    J Inherit Metab Dis. 2012 Nov;35(6):1011-9. doi: 10.1007/s10545-012-9468-z. Epub 2012 Mar 9.

    PMID:
    22403019
    [PubMed - indexed for MEDLINE]

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    4.

    Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.

    Ogier de Baulny H, Schiff M, Dionisi-Vici C.

    Mol Genet Metab. 2012 May;106(1):12-7. doi: 10.1016/j.ymgme.2012.02.010. Epub 2012 Feb 17. Review.

    PMID:
    22402328
    [PubMed - indexed for MEDLINE]

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    5.

    Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.

    Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, Dionisi-Vici C, Martinelli D, Goffredo BM, Font-Llitjós M, Mariani F, Luisetti M, Dall'Asta V.

    Mol Genet Metab. 2012 Apr;105(4):585-9. doi: 10.1016/j.ymgme.2012.01.008. Epub 2012 Jan 17.

    PMID:
    22325938
    [PubMed - indexed for MEDLINE]

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    6.

    Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).

    Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Näntö-Salonen K, Hietala M, Simell O, Mykkänen J.

    Mol Genet Metab. 2012 Mar;105(3):408-15. doi: 10.1016/j.ymgme.2011.12.007. Epub 2011 Dec 16.

    PMID:
    22221392
    [PubMed - indexed for MEDLINE]

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    7.

    Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.

    Gokce M, Unal O, Hismi B, Gumruk F, Coskun T, Balta G, Unal S, Cetin M, Kalkanoglu-Sivri HS, Dursun A, Tokatlı A.

    Pediatr Hematol Oncol. 2012 Feb;29(1):92-8. doi: 10.3109/08880018.2011.601402. Epub 2011 Oct 4.

    PMID:
    21970506
    [PubMed - indexed for MEDLINE]

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    8.

    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. doi: 10.1097/MPG.0b013e318227b02d. No abstract available.

    PMID:
    21716135
    [PubMed - indexed for MEDLINE]

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    9.

    Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

    Sebastio G, Sperandeo MP, Andria G.

    Am J Med Genet C Semin Med Genet. 2011 Feb 15;157(1):54-62. doi: 10.1002/ajmg.c.30287. Epub 2011 Feb 9. Review.

    PMID:
    21308987
    [PubMed - indexed for MEDLINE]

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    10.

    Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders.

    Kuhara T, Inoue Y, Ohse M, Krasnikov BF, Cooper AJ.

    Anal Bioanal Chem. 2011 Jun;400(7):1843-51. doi: 10.1007/s00216-011-4688-x. Epub 2011 Feb 6.

    PMID:
    21298421
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    11.

    In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.

    Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Kadija Z, Rodi G, Mariani F, Ruzza ML, Luisetti M, Dall'Asta V.

    Orphanet J Rare Dis. 2010 Nov 26;5:32. doi: 10.1186/1750-1172-5-32.

    PMID:
    21110863
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    12.

    Breast milk and gene delivery: is lysinuric protein intolerance an exemplar?

    Boyd CA, Shennan DB.

    Mol Genet Metab. 2010 Oct-Nov;101(2-3):296. doi: 10.1016/j.ymgme.2010.07.002. Epub 2010 Aug 1. No abstract available.

    PMID:
    20674423
    [PubMed - indexed for MEDLINE]

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