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Journal Abstract Search

180 related items for PubMed ID: 7558035

  • 1. Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.
    el-Maghrabi MR, Lange AJ, Jiang W, Yamagata K, Stoffel M, Takeda J, Fernald AA, Le Beau MM, Bell GI, Baker L.
    Genomics; 1995 Jun 10; 27(3):520-5. PubMed ID: 7558035
    [Abstract] [Full Text] [Related]

  • 2. Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.
    Ijaz S, Zahoor MY, Imran M, Ramzan K, Bhinder MA, Shakeel H, Iqbal M, Aslam A, Shehzad W, Cheema HA, Rehman H.
    J Pediatr Endocrinol Metab; 2017 Oct 26; 30(11):1203-1210. PubMed ID: 29016355
    [Abstract] [Full Text] [Related]

  • 3. cDNA sequences encoding human fructose 1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose 1,6-bisphosphatase deficiency.
    Kikawa Y, Inuzuka M, Takano T, Shigematsu Y, Nakai A, Yamamoto Y, Jin BY, Koga J, Taketo A, Sudo M.
    Biochem Biophys Res Commun; 1994 Mar 15; 199(2):687-93. PubMed ID: 8135811
    [Abstract] [Full Text] [Related]

  • 4. Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
    Lebigot E, Brassier A, Zater M, Imanci D, Feillet F, Thérond P, de Lonlay P, Boutron A.
    J Inherit Metab Dis; 2015 Sep 15; 38(5):881-7. PubMed ID: 25601412
    [Abstract] [Full Text] [Related]

  • 5. Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.
    Kikawa Y, Inuzuka M, Jin BY, Kaji S, Yamamoto Y, Shigematsu Y, Nakai A, Taketo A, Ohura T, Mikami H.
    Biochem Biophys Res Commun; 1995 May 25; 210(3):797-804. PubMed ID: 7763253
    [Abstract] [Full Text] [Related]

  • 6. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.
    Emecen Sanli M, Cengiz B, Kilic A, Ozsaydi E, Inci A, Okur I, Tumer L, Lebigot E, Ezgu F.
    J Pediatr Endocrinol Metab; 2022 Apr 26; 35(4):497-503. PubMed ID: 35179010
    [Abstract] [Full Text] [Related]

  • 7. Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
    Kılıç M, Kasapkara ÇS, Yılmaz DY, Özgül RK.
    Metab Brain Dis; 2019 Oct 26; 34(5):1487-1491. PubMed ID: 31278438
    [Abstract] [Full Text] [Related]

  • 8. Structure and chromosomal localization of the human and mouse muscle fructose-1,6-bisphosphatase genes.
    Tillmann H, Stein S, Liehr T, Eschrich K.
    Gene; 2000 Apr 18; 247(1-2):241-53. PubMed ID: 10773464
    [Abstract] [Full Text] [Related]

  • 9. A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.
    Liang X, Liu X, Li W, Zhang L, Zhang B, Lai G, Zhao Y.
    Arch Biochem Biophys; 2023 Jul 01; 742():109619. PubMed ID: 37142076
    [Abstract] [Full Text] [Related]

  • 10. Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis.
    Ramakrishna SH, Patil SJ, Jagadish AA, Sapare AK, Sagar H, Kannan S.
    J Pediatr Endocrinol Metab; 2017 May 24; 30(6):703-706. PubMed ID: 28599390
    [Abstract] [Full Text] [Related]

  • 11. Novel fructose-1,6-bisphosphatase gene mutation in two siblings.
    Eren E, Edgunlu T, Abuhandan M, Yetkin I.
    DNA Cell Biol; 2013 Nov 24; 32(11):635-9. PubMed ID: 24007283
    [Abstract] [Full Text] [Related]

  • 12. [Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia].
    Prahl P, Christensen E, Hansen L, Mortensen HB.
    Ugeskr Laeger; 2006 Nov 13; 168(46):4014-5. PubMed ID: 17125659
    [Abstract] [Full Text] [Related]

  • 13. The rat fructose-1,6-bisphosphatase gene. Structure and regulation of expression.
    el-Maghrabi MR, Lange AJ, Kümmel L, Pilkis SJ.
    J Biol Chem; 1991 Feb 05; 266(4):2115-20. PubMed ID: 1846613
    [Abstract] [Full Text] [Related]

  • 14. A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.
    Santer R, du Moulin M, Shahinyan T, Vater I, Maier E, Muntau AC, Steinmann B.
    Orphanet J Rare Dis; 2016 Apr 21; 11():44. PubMed ID: 27101822
    [Abstract] [Full Text] [Related]

  • 15. Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report.
    Xin B, Chen H, Liu T, Wu Y, Hu Q, Dong X, Li Z.
    Mol Genet Genomic Med; 2024 Jan 21; 12(1):e2339. PubMed ID: 38111981
    [Abstract] [Full Text] [Related]

  • 16. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
    Li N, Chang G, Xu Y, Ding Y, Li G, Yu T, Qing Y, Li J, Shen Y, Wang J, Wang X.
    Int J Mol Sci; 2017 Apr 18; 18(4):. PubMed ID: 28420223
    [Abstract] [Full Text] [Related]

  • 17. Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report.
    Almousa M, Aljomaa M, Hamey S, Alasmar D.
    J Med Case Rep; 2024 Apr 09; 18(1):166. PubMed ID: 38589931
    [Abstract] [Full Text] [Related]

  • 18. Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
    Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH.
    Eur J Pediatr; 2009 Dec 09; 168(12):1467-71. PubMed ID: 19259699
    [Abstract] [Full Text] [Related]

  • 19. Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.
    Rothschild CB, Freedman BI, Hodge R, Rao PN, Pettenati MJ, Anderson RA, Akots G, Qadri A, Roh B, Fajans SS.
    Genomics; 1995 Sep 01; 29(1):187-94. PubMed ID: 8530070
    [Abstract] [Full Text] [Related]

  • 20. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
    Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M.
    Am J Hum Genet; 1997 Oct 01; 61(4):852-61. PubMed ID: 9382095
    [Abstract] [Full Text] [Related]

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