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Journal Abstract Search

280 related items for PubMed ID: 3223107

  • 21. [Cystinolysinuric lithiasis].
    Callís L, Castelló E, Vilaplana E, Vila A.
    Bol Med Hosp Infant Mex; 1977; 34(5):1001-14. PubMed ID: 911452
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  • 22. Type I cystinuria and its genetic basis in a population of Turkish school children.
    Tanzer F, Ozgur A, Bardakci F.
    Int J Urol; 2007 Oct; 14(10):914-7. PubMed ID: 17880288
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  • 23. Pathogenesis and medical management of cystinuria.
    Sakhaee K.
    Semin Nephrol; 1996 Sep; 16(5):435-47. PubMed ID: 8890399
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  • 24. Cystinuria genotypes predicted from excretion patterns.
    Kelly S.
    Am J Med Genet; 1978 Sep; 2(2):175-90. PubMed ID: 263436
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  • 25. Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.
    Guillén M, Corella D, Cabello ML, González JI, Sabater A, Chaves JF, Hernández-Yago J.
    Clin Genet; 2005 Mar; 67(3):240-51. PubMed ID: 15691362
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  • 28. [Urinary amino acid pattern before and after intravenous arginine (a comparison with cystinuria)].
    Böhles H.
    Infusionsther Klin Ernahr; 1981 Apr; 8(2):77-81. PubMed ID: 7194863
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  • 32. LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene.
    Al-Dirbashi OY, Abu-Amero KK, Alswaid AF, Hoffmann GF, Al-Qahtani K, Rashed MS.
    J Inherit Metab Dis; 2007 Aug; 30(4):611. PubMed ID: 17701443
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  • 36. Homozygous cystinuria in New South Wales. A study of 110 individuals with cystinuria ascertained by methods other than neonatal screening.
    Smith A, Wilcken B.
    Med J Aust; 1984 Oct 13; 141(8):500-2. PubMed ID: 6482795
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  • 39. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program.
    Goodyer PR, Clow C, Reade T, Girardin C.
    J Pediatr; 1993 Apr 13; 122(4):568-72. PubMed ID: 8463902
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  • 40. Cystinuria: pathogenesis and treatment.
    Sakhaee K.
    Miner Electrolyte Metab; 1994 Apr 13; 20(6):414-23. PubMed ID: 7783705
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