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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 103825192.

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 81278743.

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 78416384.

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 73313605.

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 54124396.

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 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 42133348.

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 41731929.

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 282855010.

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 171598311.

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 1076768412.

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 578579213.

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

PMCID:: PMC5785792

Abstract Article PDF–576K

Select item 556769214.

Loss of fructose-1,6-bisphosphatase induces glycolysis and promotes apoptosis resistance of cancer stem-like cells: an important role in hexavalent chromium-induced carcinogenesis

Jin Dai, Yanli Ji, Wei Wang, Donghern Kim, Leonard Yenwong Fai, Lei Wang, Jia Luo, Zhuo Zhang

Toxicol Appl Pharmacol. Author manuscript; available in PMC 2018 Sep 15.

Published in final edited form as: Toxicol Appl Pharmacol. 2017 Sep 15; 331: 164–173. Published online 2017 Jun 15. doi: 10.1016/j.taap.2017.06.014

PMCID:: PMC5567692

Abstract Article PDF–1.5M

Select item 889873615.

A novel variant of fructose‐1,6‐bisphosphatase gene identified in an adult with newly diagnosed hepatitis C

Helena Fawdry, Rebecca Gorrigan, Radha Ramachandran, William M. Drake

JIMD Rep. 2022 Mar; 63(2): 109–113. Published online 2022 Feb 17. doi: 10.1002/jmd2.12256

PMCID:: PMC8898736

Abstract Article PDF–617K

Select item 640066016.

Fructose 1,6-bisphosphatase: getting the message across

David J. Timson

Biosci Rep. 2019 Mar 29; 39(3): BSR20190124. Prepublished online 2019 Feb 25. Published online 2019 Mar 6. doi: 10.1042/BSR20190124

PMCID:: PMC6400660

Abstract Article PDF–257K

Select item 540969517.

Inborn Errors of Fructose Metabolism. What Can We Learn from Them?

Christel Tran

Nutrients. 2017 Apr; 9(4): 356. Published online 2017 Apr 3. doi: 10.3390/nu9040356

PMCID:: PMC5409695

Abstract Article PDF–366K

Select item 154586218.

Defect of platelet function associated with chronic hypoglycaemia.

R A Hutton, A J Macnab, R P Rivers

Arch Dis Child. 1976 Jan; 51(1): 49–55. doi: 10.1136/adc.51.1.49

PMCID:: PMC1545862

Summary Page Browse PDF–989K

Select item 122310619.

Triosidines: novel Maillard reaction products and cross-links from the reaction of triose sugars with lysine and arginine residues.

Frederic J Tessier, Vincent M Monnier, Lawrence M Sayre, Julia A Kornfield

Biochem J. 2003 Feb 1; 369(Pt 3): 705–719. doi: 10.1042/BJ20020668

PMCID:: PMC1223106

Summary PDF–338K

Select item 1002516320.

p38 MAPK and MKP-1 control the glycolytic program via the bifunctional glycolysis regulator PFKFB3 during sepsis

Carli E. Mager, Justin M. Mormol, Evan D. Shelton, Parker R. Murphy, Bridget A. Bowman, Timothy J. Barley, Xiantao Wang, Sarah C. Linn, Kevin Liu, Leif D. Nelin, Markus Hafner, Yusen Liu

J Biol Chem. 2023 Apr; 299(4): 103043. Published online 2023 Feb 17. doi: 10.1016/j.jbc.2023.103043

PMCID:: PMC10025163

Abstract Article PDF–2.8M

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