These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 9382095)

  • 1. 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
    [TBL] [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; 30(11):1203-1210. PubMed ID: 29016355
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 30(6):703-706. PubMed ID: 28599390
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.
    Herzog B; Wendel U; Morris AA; Eschrich K
    J Inherit Metab Dis; 1999 Apr; 22(2):132-8. PubMed ID: 10234608
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 210(3):797-804. PubMed ID: 7763253
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 12(1):e2339. PubMed ID: 38111981
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
    Matsuura T; Chinen Y; Arashiro R; Katsuren K; Tamura T; Hyakuna N; Ohta T
    Mol Genet Metab; 2002 Jul; 76(3):207-10. PubMed ID: 12126934
    [TBL] [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; 38(5):881-7. PubMed ID: 25601412
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis.
    Moon S; Kim JH; Han JH; Ko SH; Ahn YB; Kim JH; Yang SH; Song KH
    Metabolism; 2011 Jan; 60(1):107-13. PubMed ID: 20096900
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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(4):. PubMed ID: 28420223
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in
    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; 35(4):497-503. PubMed ID: 35179010
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 699():102-109. PubMed ID: 30858132
    [TBL] [Abstract][Full Text] [Related]  

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

  • 16. 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; 199(2):687-93. PubMed ID: 8135811
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].
    Xu K; Liu XQ; Zhang CY; Wang Y; Li X; Wu Y; Yang YL; Xiao HJ
    Beijing Da Xue Xue Bao Yi Xue Ban; 2014 Oct; 46(5):681-5. PubMed ID: 25331386
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
    Yasir Zahoor M; Cheema HA; Ijaz S; Fayyaz Z
    Fetal Pediatr Pathol; 2020 Oct; 39(5):430-440. PubMed ID: 31584309
    [No Abstract]   [Full Text] [Related]  

  • 19. 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; 34(5):1487-1491. PubMed ID: 31278438
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 27(3):520-5. PubMed ID: 7558035
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.