Results 31 to 40 of about 3,959 (161)

Quality of life of adult patients with hereditary fructose intolerance. [PDF]

Molecular Genetics and Metabolism, 2023
BACKGROUND Although patients with hereditary fructose intolerance (HFI) generally have a good prognosis on a fructose-restricted diet, relatively little is known about their quality of life. The aim of this study was to investigate the quality of life in
Lise E. F. Janssen, D. Cassiman, M. Brouwers   +2 more
semanticscholar   +2 more sources

[Hereditary fructose intolerance]. [PDF]

Nederlands tijdschrift voor geneeskunde, 2014
Hereditary fructose intolerance (HFI) is a rare metabolic disease affecting fructose metabolism. After ingestion of fructose, patients may present with clinical symptoms varying from indefinite gastrointestinal symptoms to life-threatening hypoglycaemia and hepatic failure.A 13-year-old boy was referred to the department of metabolic diseases because ...
Lynne, Rumping, Hans R, Waterham, Irene, Kok, Peter M, van Hasselt, Gepke, Visser   +4 more
core   +5 more sources

Treatment preferences of adult patients with hereditary fructose intolerance: A discrete choice experiment. [PDF]

Molecular Genetics and Metabolism
BACKGROUND Patients with hereditary fructose intolerance (HFI) follow a fructose-restricted diet to avoid life-threatening complications. The aim of this study was to investigate whether patients with HFI have a preference for a pharmacological therapy ...
Lise E. F. Janssen, Mickaël Hiligsmann, C. Timmer, L. M. van der Ploeg, K. V. Kerckhove, Timothy M. Cox, Javier de las Heras, D. Cassiman, M. Brouwers   +8 more
semanticscholar   +3 more sources

Correction: Vitamin C and folate status in hereditary fructose intolerance. [PDF]

Eur J Clin Nutr, 2023
Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Chicano DM, Morales M, Pedrón-Giner C, Jáuregui EP, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Suarez MU, Miñana IV, de Las Heras J.   +21 more
europepmc   +2 more sources

Hereditary Fructose Intolerance

Definitions, 2009
Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits.
Dieter Metze, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, Seda Sancak, Ralf Paschke, Susan Kupka, Stefan K. Plontke, Hans-Peter Zenner, Susan Kupka, Gohar Azhar, Jeanne Y. Wei, Y. James Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, Philipp M. Lepper, Alexander K. C. Leung, Johannes G. Bode, Johannes G. Bode, Clifford E. Kashtan, Klaus Schümann, Günter Weiss, Christine Skerka, Christoph Licht, Peter F. Zipfel, Hugo ten Cate, Hugo ten Cate, Hugo ten Cate, Mark Oette, Dieter Häussinger, Isabelle L. Ruel, Patrick Couture, Benoît Lamarche, Sören V. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Dieter Häussinger, Andreas Erhardt, Andreas Erhardt, Frank Lammert, Johann Lorenzen, Hubert E. Blum, Darius Moradpour, Ralf Kubitz, Georg Merker, Dieter Häussinger, Matthias Wettstein, Matthias Wettstein, Mónica Guevara, Pere Ginès, Hugo Ten Cate, Alexander K. C. Leung, Ulrich Heininger, Markus Pfister, Hans-Peter Zenner, Marcus Schmitt, Arend F. L. Schinkel, Don Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Ralf Kubitz, Georg H. Merker, Dieter Häussinger, Percy Chiu, Richard S. Legro, William L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, Arne W. J. H. Dielis, Hugo ten Cate, S. Harvey Mudd, Christian Simon, Oliver Schildgen, Suncanica Ljubin Sternak, Gordana Mlinaric-Galinovic, Eggert Stockfleth, Ingo Nindl, Inga Zerr, Mathias Bähr, Nicole Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, Alexander K. C. Leung, Shoichi Katsuragi, Bodo Grimbacher, Cristina Woellner, Steven Holland, Christian A. Koch, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. John Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick TS Ma, Lucia K Ma, Alexander K. C Leung, Angelika F. Hahn, Mallikarjuna Nallegowda, Upinderpal Singh, Mangajji R. Umapathi, Rakesh Kumar, Hugo ten Cate, Hugo ten Cate, Raffaele Badolato, Benjamin Glaser, Ruth Schreiber, Daniel Landau, Keiya Tada, Yoichi Matsubara, Goo Taeg Oh, Carla Kallen, Joel Michels Topf, Patrick Murray, S. Harvey Mudd, Jaime Tejedor, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Manish Kumar Varshney, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, Haruo Shintaku, Hiroshi Ichinose, Henry J. Mankin, Christian A. Koch, Gabriel I. Uwaifo, Bettina C. Reulecke, Jonas Denecke, Werner Heppt, Annette Cryer, Rade Tomic, Jesse Roman, Jan Rémi, Soheyl Noachtar, Miki Nagase, Toshiro Fujita, Angel Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Balakrishna Poduval, Saurabh Chatterjee, Hulya Iliksu Gozu, Markus Eszlinger, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblinghoff, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblighoff, Rifat Bircan, Roland Pfäffle, Ralf Paschke, Shui-Ping Zhao, Hui-Jun Ye, Jens Mogensen, Rejin Kebudi, Sezer Saglam, Michael A. Becker, John R. Asplin, Keiya Tada, Yoichi Matsubara, Robert W. Gotshall, Christian A. Koch, Hubert Scharnagl, Winfried März, John A. Sayer, Simon H. Pearce, James J. Paparello, Philip J. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Alexander K. C. Leung   +199 more
openaire   +2 more sources

Two cases of hereditary fructose intolerance [PDF]

Indian Journal of Clinical Biochemistry, 2003
Hereditary fructose intolerance is a rare cause of hepatic cirrhosis in the young. The disorder has a reported frequency of 1 in 20000 live births and no case has been reported from India so far. We report two cases of hereditary fructose intolerance, both with bilateral cataracts and one with cirrhosis of the liver.
N, Ananth, G S, Praveenkumar, K Aravind, Rao, , Vasanthi, Srinivas, Kakkilaya   +4 more
exaly   +3 more sources

The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review. [PDF]

J Diabetes Metab Disord
Maines E, Gugelmo G, Maiorana A, Martinelli D, Vitturi N, Lenzini L, Piccoli G, Soffiati M, Franceschi R.   +8 more
europepmc   +2 more sources

Hereditary fructose intolerance. [PDF]

Maandschrift voor kindergeneeskunde, 1998
Hereditary fructose intolerance (HFI, OMIM 22960), caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase, EC 4.1.2.13), is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods containing fructose and cognate sugars.
E R, FROESCH, A, PRADER, H P, WOLF, A, LABHART   +3 more
  +8 more sources

Hereditary fructose intolerance in Brazilian patients. [PDF]

Mol Genet Metab Rep, 2015
Introduction: Hereditary fructose intolerance (HFI) is a rare inborn error of carbohydrate metabolism, autosomal recessive, caused by mutations in the gene ALDOB, leading to deficiency of aldolase B.
Valadares ER, Cruz AF, Adelino TE, Kanufre Vde C, Ribeiro Mdo C, Penido MG, Peret Filho LA, Valadares LM.   +7 more
europepmc   +2 more sources

Kidney and vascular function in adult patients with hereditary fructose intolerance. [PDF]

Mol Genet Metab Rep, 2020
Objective: Previous studies have shown that patients with hereditary fructose intolerance (HFI) are characterized by a greater intrahepatic triglyceride content, despite a fructose-restricted diet.
Simons N, Debray FG, Schaper NC, Feskens EJM, Hollak CEM, Bons JAP, Bierau J, Houben AJHM, Schalkwijk CG, Stehouwer CDA, Cassiman D, Brouwers MCGJ.   +11 more
europepmc   +3 more sources