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Journal Abstract Search

150 related items for PubMed ID: 34687058

  • 21. Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
    Bhai P, Bijarnia-Mahay S, Puri RD, Saxena R, Gupta D, Kotecha U, Sachdev A, Gupta D, Vyas V, Agarwal D, Jain V, Bansal RK, Kumar TG, Verma IC.
    Ann Hum Genet; 2018 Sep; 82(5):309-317. PubMed ID: 29774539
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  • 22. Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency.
    Takagi D, Ben-Ari J, Nemet D, Zeharia A, Eliakim A.
    J Pediatr Endocrinol Metab; 2013 Sep; 26(7-8):761-3. PubMed ID: 23585210
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  • 23. 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
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  • 27. 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
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  • 28. [Hypoglycemia and hyperlactacidemia in relation with a new case of fructose-1,6-diphosphatase deficiency. Determination of enzymatic activity in leukocytes].
    Rayet I, Teyssier G, Berlioux F, Maire I, Freycon MT.
    Pediatrie; 1986 Sep; 41(1):49-55. PubMed ID: 3014428
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  • 30. Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
    Sakuma I, Nagano H, Hashimoto N, Fujimoto M, Nakayama A, Fuchigami T, Taki Y, Matsuda T, Akamine H, Kono S, Kono T, Yokoyama M, Nishimura M, Yokote K, Ogasawara T, Fujii Y, Ogawa S, Lee E, Miki T, Tanaka T.
    Commun Biol; 2023 Jul 28; 6(1):787. PubMed ID: 37507476
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  • 31. Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
    Afroze B, Yunus Z, Steinmann B, Santer R.
    Eur J Pediatr; 2013 Sep 28; 172(9):1249-53. PubMed ID: 23881342
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  • 34. Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency.
    Hommes FA, Campbell R, Steinhart C, Roesel RA, Bowyer F.
    J Inherit Metab Dis; 1985 Sep 28; 8(4):169-73. PubMed ID: 3023747
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  • 35. Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS.
    Beatty ME, Zhang YH, McCabe ER, Steiner RD.
    Mol Genet Metab; 2000 Apr 28; 69(4):338-40. PubMed ID: 10870852
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  • 39. 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
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