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    Results: 1 to 20 of 21

    1.

    Characterization of patients with heterozygous cystinuria.

    Elkoushy MA, Andonian S.

    Urology. 2012 Oct;80(4):795-9. doi: 10.1016/j.urology.2012.04.062. Epub 2012 Jul 31.

    PMID:
    22854136
    [PubMed - indexed for MEDLINE]
    2.

    Two novel deletions in hypotonia-cystinuria syndrome.

    Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J.

    Mol Genet Metab. 2012 Nov;107(3):614-6. doi: 10.1016/j.ymgme.2012.06.011. Epub 2012 Jun 26.

    PMID:
    22796000
    [PubMed - indexed for MEDLINE]
    3.

    Staghorn cystine stone in a 72-year-old recurrent calcium stone former.

    Cupisti A, Farnesi I, Armillotta N, Francesca F.

    Clin Nephrol. 2012 Jul;78(1):76-80.

    PMID:
    22732341
    [PubMed - indexed for MEDLINE]
    4.

    Cystinuria: mechanisms and management.

    Claes DJ, Jackson E.

    Pediatr Nephrol. 2012 Nov;27(11):2031-8. doi: 10.1007/s00467-011-2092-6. Epub 2012 Jan 27. Review.

    PMID:
    22281707
    [PubMed - indexed for MEDLINE]
    5.

    Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria.

    Amat S, Czerkiewicz I, Benoist JF, Eurin D, Fontanges M, Muller F.

    Ultrasound Obstet Gynecol. 2011 Nov;38(5):543-7. doi: 10.1002/uog.8917.

    PMID:
    22028043
    [PubMed - indexed for MEDLINE]
    Free Article
    6.

    Potential pharmacologic treatments for cystinuria and for calcium stones associated with hyperuricosuria.

    Goldfarb DS.

    Clin J Am Soc Nephrol. 2011 Aug;6(8):2093-7. doi: 10.2215/CJN.00320111. Epub 2011 Jul 14. Review.

    PMID:
    21757641
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

    Gucev Z, Ristoska-Bojkovska N, Popovska-Jankovic K, Sukarova-Stefanovska E, Tasic V, Plaseska-Karanfilska D, Efremov GD.

    J Genet. 2011 Apr;90(1):157-9. No abstract available.

    PMID:
    21677404
    [PubMed - indexed for MEDLINE]
    Free Article
    8.

    Necessity of fractionated urine collection for monitoring patients with cystinuria.

    van Hoeve K, Vermeersch P, Regal L, Levtchenko E.

    Clin Chem. 2011 May;57(5):780-1. doi: 10.1373/clinchem.2010.161547. Epub 2011 Mar 15. No abstract available.

    PMID:
    21406574
    [PubMed - indexed for MEDLINE]
    Free Article
    9.

    Foetal hyper-echogenic colon as an early sign of cystinuria.

    Cobo Costa A, Luis Yanes MI, Padilla Pérez AI, Alvarez de la Rosa M, García Nieto VM, Troyano Luque JM.

    Nefrologia. 2011;31(1):123-4. doi: 10.3265/Nefrologia.pre2010.Sep.10636. No abstract available.

    PMID:
    21270932
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.

    Chang VY, Quintero-Rivera F, Baldwin EE, Woo K, Martinez-Agosto JA, Fu C, Gomperts BN.

    Pediatr Blood Cancer. 2011 Mar;56(3):470-3. doi: 10.1002/pbc.22909. Epub 2010 Nov 28.

    PMID:
    21225931
    [PubMed - indexed for MEDLINE]
    11.

    Impact of a metabolic stone clinic on management of patients with cystinuria: 5 years follow-up.

    Haritopoulos K, Fojtik P, Cross W, Cartledge J.

    Clin Ter. 2010;161(4):341-4.

    PMID:
    20931157
    [PubMed - indexed for MEDLINE]
    12.

    Analysis of 24-hour urine parameters as it relates to age of onset of cystine stone formation.

    Lambert EH, Asplin JR, Herrell SD, Miller NL.

    J Endourol. 2010 Jul;24(7):1179-82. doi: 10.1089/end.2010.0133.

    PMID:
    20624086
    [PubMed - indexed for MEDLINE]
    13.

    Pathophysiology and treatment of cystinuria.

    Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M.

    Nat Rev Nephrol. 2010 Jul;6(7):424-34. doi: 10.1038/nrneph.2010.69. Epub 2010 Jun 1. Review.

    PMID:
    20517292
    [PubMed - indexed for MEDLINE]
    14.

    Acute renal failure due to bilateral pieloureteral stone impaction in a 10-month-old boy.

    Cara Fuentes GM, Espinosa Roman L, Melgosa Hijosa M, Navarro Torres M.

    Clin Exp Nephrol. 2010 Aug;14(4):401-3. doi: 10.1007/s10157-010-0290-3. Epub 2010 May 13.

    PMID:
    20464442
    [PubMed - indexed for MEDLINE]
    15.

    New horizons in the management of patients with cystinuria.

    Tiselius HG.

    Curr Opin Urol. 2010 Mar;20(2):169-73. doi: 10.1097/MOU.0b013e328333b674. Review.

    PMID:
    19887942
    [PubMed - indexed for MEDLINE]
    16.

    Cystinuria: the South Indian experience.

    Marickar YM.

    Urol Res. 2009 Dec;37(6):341-3. doi: 10.1007/s00240-009-0217-1. Epub 2009 Sep 25.

    PMID:
    19779707
    [PubMed - indexed for MEDLINE]
    17.

    Prevalence of cystinuria among elementary schoolchildren in Eskisehir, Turkey.

    Aydogdu SD, Kirel B, Coskun T, Kose S.

    Scand J Urol Nephrol. 2009;43(2):138-41. doi: 10.1080/00365590802625060.

    PMID:
    19096983
    [PubMed - indexed for MEDLINE]
    18.

    Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children.

    DeBerardinis RJ, Coughlin CR 2nd, Kaplan P.

    J Urol. 2008 Dec;180(6):2620-3. doi: 10.1016/j.juro.2008.08.057. Epub 2008 Oct 31.

    PMID:
    18951580
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Cystinuria: a rare diagnosis that should not be missed.

    Chiu PK, Chan ES, Hou SS, Ng CF.

    Hong Kong Med J. 2008 Oct;14(5):399-401.

    PMID:
    18840913
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

    Chatzikyriakidou A, Louizou E, Dedousis GV, Bisceglia L, Michelakakis H, Georgiou I.

    Mol Genet Metab. 2008 Nov;95(3):192-3. doi: 10.1016/j.ymgme.2008.07.006. Epub 2008 Sep 7. No abstract available.

    PMID:
    18778962
    [PubMed - indexed for MEDLINE]

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