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Select item 2923681.

Hepatic fructose-1,6-diphosphatase deficiency: A cause of lactic acidosis and hypoglycemia in infancy

Anthony S. Pagliara, Irene E. Karl, James P. Keating, Barbara I. Brown, David M. Kipnis

J Clin Invest. 1972 Aug; 51(8): 2115–2123. doi: 10.1172/JCI107018

PMCID:: PMC292368

Summary Page Browse PDF–1.4M

Select item 114122782.

Infantile Fructose-1,6-Bisphosphatase Deficiency Masquerading as Mitochondriopathy

Varshini Chandrasekhar, Pallavi Yelkur, Vidhyasagar K

Cureus. 2024 Aug; 16(8): e67291. Published online 2024 Aug 20. doi: 10.7759/cureus.67291

PMCID:: PMC11412278

Abstract Article PDF–157K

Select item 17159833.

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Y Kikawa, M Inuzuka, B Y Jin, S Kaji, J Koga, Y Yamamoto, K Fujisawa, I Hata, A Nakai, Y Shigematsu, H Mizunuma, A Taketo, M Mayumi, M Sudo

Am J Hum Genet. 1997 Oct; 61(4): 852–861. doi: 10.1086/514875

PMCID:: PMC1715983

Summary Page Browse PDF–1.8M

Select item 28285504.

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency

Hidde H. Huidekoper, Gepke Visser, Mariëtte T. Ackermans, Hans P. Sauerwein, Frits A. Wijburg

J Inherit Metab Dis. 2010; 33(1): 25–31. Published online 2010 Feb 2. doi: 10.1007/s10545-009-9030-9

PMCID:: PMC2828550

Abstract Article PDF–161K

Select item 41731925.

Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder

Mahesh Kamate, Milind Jambagi, Prashanth Gowda, Smita Sonoli

BMJ Case Rep. 2014; 2014: bcr2013201553. Published online 2014 Sep 22. doi: 10.1136/bcr-2013-201553

PMCID:: PMC4173192

Abstract Article PDF–235K

Select item 42133346.

Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control

Genki Sugita, Hideaki Tsuyoshi, Koji Nishijima, Yoshio Yoshida

JIMD Rep. 2014; 14: 115–118. Published online 2014 Jan 28. doi: 10.1007/8904_2013_290

PMCID:: PMC4213334

Abstract Article PDF–95K

Select item 48390657.

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau, Beat Steinmann

Orphanet J Rare Dis. 2016; 11: 44. Published online 2016 Apr 21. doi: 10.1186/s13023-016-0415-1

PMCID:: PMC4839065

Abstract Article PDF–1.0M

Select item 54124398.

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Yanrong Qing, Juan Li, Yiping Shen, Jian Wang, Xiumin Wang

Int J Mol Sci. 2017 Apr; 18(4): 857. Published online 2017 Apr 18. doi: 10.3390/ijms18040857

PMCID:: PMC5412439

Abstract Article PDF–2.9M

Select item 73313609.

Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation

Shiyue Mei, Chao Ma, Yibing Cheng, Suyun Qian, Zhipeng Jin

Pediatr Investig. 2019 Jun; 3(2): 122–126. Published online 2019 Jun 25. doi: 10.1002/ped4.12135

PMCID:: PMC7331360

Abstract Article PDF–1.0M

Select item 784163810.

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis: An important cause of hypoglycemia in children

Rihab M. Salih, Esraa A. Mohammed, Amal M. Alhashem, Sarar Mohamed, Aida I. Al-aqeel

Saudi Med J. 2020 Feb; 41(2): 199–202. doi: 10.15537/smj.2020.2.24885

PMCID:: PMC7841638

Abstract Article PDF–222K

Select item 1038251911.

Identification of genotype–biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency

Ikki Sakuma, Hidekazu Nagano, Naoko Hashimoto, Masanori Fujimoto, Akitoshi Nakayama, Takahiro Fuchigami, Yuki Taki, Tatsuma Matsuda, Hiroyuki Akamine, Satomi Kono, Takashi Kono, Masataka Yokoyama, Motoi Nishimura, Koutaro Yokote, Tatsuki Ogasawara, Yoichi Fujii, Seishi Ogawa, Eunyoung Lee, Takashi Miki, Tomoaki Tanaka

Commun Biol. 2023; 6: 787. Published online 2023 Jul 28. doi: 10.1038/s42003-023-05160-y

PMCID:: PMC10382519

Abstract Article PDF–6.9M

Select item 1147039412.

A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient

Shami Pokhrel, Subha Sainju, Prasanna Lamsal, Uma Devi Chhetri

Mol Genet Metab Rep. 2024 Dec; 41: 101143. Published online 2024 Sep 25. doi: 10.1016/j.ymgmr.2024.101143

PMCID:: PMC11470394

Abstract Article PDF–469K

Select item 1125801613.

Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association

Qi Ni, Meiling Tang, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Wenhao Zhou, Xinran Dong

Front Genet. 2024; 15: 1296797. Published online 2024 Jul 5. doi: 10.3389/fgene.2024.1296797

PMCID:: PMC11258016

Abstract Article PDF–1.6M

Select item 812787414.

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira, Camila Matuella, Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Fernando Kok, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig

Genet Mol Biol. 2021; 44(2): e20200281. Published online 2021 May 14. doi: 10.1590/1678-4685-GMB-2020-0281

PMCID:: PMC8127874

Abstract Article PDF–1.2M

Select item 1076768415.

Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report

Bin Xin, Haiming Chen, Tianyi Liu, Yue Wu, Qingyang Hu, Xue Dong, Zhong Li

Mol Genet Genomic Med. 2024 Jan; 12(1): e2339. Published online 2023 Dec 19. doi: 10.1002/mgg3.2339

PMCID:: PMC10767684

Abstract Article PDF–2.6M

Select item 578579216.

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

A. Pinto, M. Alfadhel, R. Akroyd, Y. Atik Altınok, S. M. Bernabei, L. Bernstein, G. Bruni, G. Caine, E. Cameron, R. Carruthers, B. Cochrane, A. Daly, F. de Boer, S. Delaunay, A. Dianin, M. Dixon, E. Drogari, S. Dubois, S. Evans, J. Gribben, G. Gugelmo, C. Heidenborg, I. Hunjan, I. L. Kok, B. Kumru, A. Liguori, D. Mayr, E. Megdad, U. Meyer, R. B. Oliveira, A. Pal, A. Pozzoli, R. Pretese, J. C. Rocha, S. Rosenbaum-Fabian, J. Serrano-Nieto, E. Sjoqvist, C. Timmer, L. White, T. van den Hurk, M. van Rijn, H. Zweers, M. Ziadlou, A. MacDonald

Orphanet J Rare Dis. 2018; 13: 21. Published online 2018 Jan 25. doi: 10.1186/s13023-018-0760-3