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Journal Abstract Search

325 related items for PubMed ID: 15880727

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  • 44. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
    Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H.
    J Cyst Fibros; 2008 Mar; 7(2):102-9. PubMed ID: 17662673
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  • 45. Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.
    Brooks CC, Buist N, Tuerck J, Tolan DR.
    Am J Hum Genet; 1991 Nov; 49(5):1075-81. PubMed ID: 1928090
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  • 46. Hereditary Fructose Intolerance Diagnosed in Adulthood.
    Kim MS, Moon JS, Kim MJ, Seong MW, Park SS, Ko JS.
    Gut Liver; 2021 Jan 15; 15(1):142-145. PubMed ID: 33028743
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  • 48. Case report: heterogeneity of aldolase B in hereditary fructose intolerance.
    Kaiser UB, Hegele RA.
    Am J Med Sci; 1991 Dec 15; 302(6):364-8. PubMed ID: 1772121
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  • 49. Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans.
    Tolan DR, Brooks CC.
    Biochem Med Metab Biol; 1992 Aug 15; 48(1):19-25. PubMed ID: 1524867
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  • 50. Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
    Sánchez-Gutiérrez JC, Benlloch T, Leal MA, Samper B, García-Ripoll I, Felíu JE.
    J Med Genet; 2002 Sep 15; 39(9):e56. PubMed ID: 12205126
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  • 51. Hereditary fructose intolerance.
    Ali M, Rellos P, Cox TM.
    J Med Genet; 1998 May 15; 35(5):353-65. PubMed ID: 9610797
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  • 53. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
    Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ.
    Mol Genet Metab; 2018 Apr 15; 123(4):428-432. PubMed ID: 29510902
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  • 57. Fructose-1-phosphate and fructose-1,6-bisphosphate aldolases in the small intestinal mucosa.
    Lerner Z, Cooper M, Granot E, Hegesh E.
    Isr J Med Sci; 1987 Mar 15; 23(3):185-7. PubMed ID: 3583699
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  • 58. Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.
    Djambas Khayat C, Salem N, Chouery E, Corbani S, Moix I, Nicolas E, Morris MA, de Moerloose P, Mégarbané A.
    Haemophilia; 2008 Jul 15; 14(4):709-16. PubMed ID: 18479430
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  • 59. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
    Sokolová J, Janosíková B, Terwilliger JD, Freiberger T, Kraus JP, Kozich V.
    Hum Mutat; 2001 Dec 15; 18(6):548-9. PubMed ID: 11748855
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