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• Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.

  Afroze B, Yunus Z, Steinmann B, Santer R. Afroze B, et al. Eur J Pediatr. 2013 Sep;172(9):1249-53. doi: 10.1007/s00431-013-2084-6. Epub 2013 Jul 24. Eur J Pediatr. 2013. PMID: 23881342
• 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. Sakuma I, et al. Commun Biol. 2023 Jul 28;6(1):787. doi: 10.1038/s42003-023-05160-y. Commun Biol. 2023. PMID: 37507476 Free PMC article.
• 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. Lebigot E, et al. J Inherit Metab Dis. 2015 Sep;38(5):881-7. doi: 10.1007/s10545-014-9804-6. Epub 2015 Jan 20. J Inherit Metab Dis. 2015. PMID: 25601412
• Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.

  Sharma AG, Kanwal SK, Chhapola V, Kumar V. Sharma AG, et al. J Postgrad Med. 2018 Jul-Sep;64(3):180-182. doi: 10.4103/jpgm.JPGM_216_17. J Postgrad Med. 2018. PMID: 29992913 Free PMC article.
• Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.

  Kılıç M, Kasapkara ÇS, Yılmaz DY, Özgül RK. Kılıç M, et al. Metab Brain Dis. 2019 Oct;34(5):1487-1491. doi: 10.1007/s11011-019-00455-8. Epub 2019 Jul 5. Metab Brain Dis. 2019. PMID: 31278438