Results 21 to 30 of about 3,517 (179)

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

Eur J Clin Nutr, 2022
Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of ...
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   +4 more sources

Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance [PDF]

Communications Biology
Hereditary fructose intolerance (HFI) is a painful and potentially lethal genetic disease caused by a mutation in aldolase B resulting in accumulation of fructose-1-phosphate (F1P).
Ana Andres-Hernando, David J. Orlicky, Masanari Kuwabara, Mehdi A. Fini, Dean R. Tolan, Richard J. Johnson, Miguel A. Lanaspa   +6 more
doaj   +2 more sources

Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance [PDF]

Orphanet Journal of Rare Diseases
Background Hereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse excipient tolerability in patients with HFI and other related diseases and to design mobile and website ...
Elsa Izquierdo-García, Andrea Lázaro-Cebas, Berta Montero Pastor, Ana Such Díaz, Elena Alba Álvaro-Alonso, Laura López Guerra, Ismael Escobar-Rodríguez   +6 more
doaj   +2 more sources

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance [PDF]

Gut and Liver, 2012
Background/AimsEndoscopic sphincterotomy may be limited in Billroth II gastrectomy because of difficulty in orientating the duodenoscope and sphincterotome as a result of altered anatomy.
Choi HW, Lee YJ, Oh SH, Kim KM, Ryu JM, Lee BH, Kim GH, Yoo HW.   +7 more
doaj   +2 more sources

Safety of Sars-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance [PDF]

Human Vaccines & Immunotherapeutics, 2021
Silvana A. M. Urru, Evelina Maines, Annalisa Campomori, Massimo Soffiati   +3 more
doaj   +2 more sources

Safety and efficacy of pharmacological inhibition of ketohexokinase in hereditary fructose intolerance [PDF]

The Journal of Clinical Investigation
Evi J.C. Koene, Amée M. Buziau, David Cassiman, Timothy M. Cox, Judith Bons, Jean L.J.M. Scheijen, Casper G. Schalkwijk, Steven J.R. Meex, Aditi R. Saxena, William P. Esler, Vera B. Schrauwen-Hinderling, Patrick Schrauwen, Martijn C.G.J. Brouwers   +12 more
doaj   +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

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

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +5 more sources

Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption

BMC Gastroenterology, 2022
Background While role of ALDOB-related gene variants for hereditary fructose intolerance is well established, contribution of gene variants for acquired fructose malabsorption (e.g. SLC2A5, GLUT5) is not well understood.
Irina Taneva, Dorothee Grumann, Dietmar Schmidt, Elina Taneva, Ulrike von Arnim, Thomas Ansorge, Thomas Wex   +6 more
doaj   +1 more source

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]

, 2019
This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S, Borrelli M, Caffarelli C, Corsello G., Di Pinto R, Gaeta V, Iovane B, Mastrorilli C, Petraroli M, Santamaria F, Santoro A   +10 more
core   +4 more sources