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142 related items for PubMed ID: 11999979

  • 1. Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy.
    Kikawa Y, Shin YS, Inuzuka M, Zammarchi E, Mayumi M.
    J Inherit Metab Dis; 2002 Feb; 25(1):41-6. PubMed ID: 11999979
    [Abstract] [Full Text] [Related]

  • 2. 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; 61(4):852-61. PubMed ID: 9382095
    [Abstract] [Full Text] [Related]

  • 3. Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.
    Åsberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, Hellerud C.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S113-21. PubMed ID: 20151204
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. 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]

  • 7. Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
    Pinheiro FC, Sperb-Ludwig F, Ligabue-Braun R, Schüler-Faccini L, de Souza CFM, Vairo F, Schwartz IVD.
    Gene; 2019 May 30; 699():102-109. PubMed ID: 30858132
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [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]

  • 10. 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 13; 38(5):881-7. PubMed ID: 25601412
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients.
    Shin YS.
    Clin Investig; 1993 Feb 26; 71(2):115-8. PubMed ID: 8384909
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 01; 12(1):e2339. PubMed ID: 38111981
    [Abstract] [Full Text] [Related]

  • 15. Characterization of human fructose-1,6-bisphosphatase in control and deficient tissues.
    Adams A, Redden C, Menahem S.
    J Inherit Metab Dis; 1990 Jan 01; 13(6):829-48. PubMed ID: 1964188
    [Abstract] [Full Text] [Related]

  • 16. A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency.
    Lu JR, Wang C, Shao LP.
    Chin Med J (Engl); 2017 Aug 20; 130(16):2009-2010. PubMed ID: 28776561
    [No Abstract] [Full Text] [Related]

  • 17. Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.
    Salih RM, Mohammed EA, Alhashem AM, Mohamed S, Al-Aqeel AI.
    Saudi Med J; 2020 Feb 20; 41(2):199-202. PubMed ID: 32020156
    [Abstract] [Full Text] [Related]

  • 18. Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.
    Krishnamurthy V, Eschrich K, Boney A, Sullivan J, McDonald M, Kishnani PS, Koeberl DD.
    J Inherit Metab Dis; 2007 Oct 20; 30(5):819. PubMed ID: 17705024
    [Abstract] [Full Text] [Related]

  • 19. Fructose-1,6-bisphosphatase deficiency.
    Yi C, Xie J.
    Endokrynol Pol; 2022 Oct 20; 73(5):911-912. PubMed ID: 35971930
    [Abstract] [Full Text] [Related]

  • 20. 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]

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