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Journal Abstract Search

123 related items for PubMed ID: 207269

  • 21. [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
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  • 25. 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
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  • 26. Characterization of human fructose-1,6-bisphosphatase in control and deficient tissues.
    Adams A, Redden C, Menahem S.
    J Inherit Metab Dis; 1990 May 24; 13(6):829-48. PubMed ID: 1964188
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  • 27. Recurrent attacks of ketotic acidosis associated with fructose-1,6-diphosphatase deficiency.
    Corbeel L, Eggermont E, Eeckels R, Jaeken J, Casteels-Van Daele M, Devlieger H, Delmontte B.
    Acta Paediatr Belg; 1976 May 24; 29(1):29-34. PubMed ID: 189564
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  • 28. Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.
    Baker L, Winegrad AI.
    Lancet; 1970 Jul 04; 2(7662):13-6. PubMed ID: 4193749
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  • 29. Improvement in jejunal enzyme adaptation in obese adult-onset diabetic patients following a 30-day fast.
    Stifel FB, Lufkin EG, Hagler L, Greene HL, Taunton OD, Wrensch M, Miller CL, Herman RH.
    Am J Clin Nutr; 1976 Sep 04; 29(9):989-96. PubMed ID: 183494
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  • 32. 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 04; 25(1):41-6. PubMed ID: 11999979
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  • 34. [Glycemic regulation. Application to the diagnosis of hypoglycemia in children (excluding neonatal hypoglycemia)].
    Saudubray JM, Marsac C.
    Ann Pediatr (Paris); 1978 Feb 04; 25(3-4):153-60. PubMed ID: 16114320
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  • 35. Gluconeogenic response to mannoheptulose in the rat.
    Klain GJ, Meikle AW, O'Barr TP.
    J Nutr; 1976 Jan 04; 106(1):68-72. PubMed ID: 173818
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  • 36. 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
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  • 37. 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 10; 41(2):199-202. PubMed ID: 32020156
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  • 39. Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.
    Morris AA, Deshphande S, Ward-Platt MP, Whitfield AE, Aynsley-Green A, Leonard JV, Pourfarzam M, Bartlett K.
    J Inherit Metab Dis; 1995 Feb 10; 18(1):28-32. PubMed ID: 7623439
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  • 40. Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis".
    Bakker HD, de Bree PK, van Sprang FJ, Wadman SK.
    Clin Chim Acta; 1974 Aug 30; 55(1):41-7. PubMed ID: 4370029
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