Results 21 to 30 of about 10,535 (179)

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

Molecular Genetics and Metabolism Reports, 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.
Nynke Simons, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers   +11 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

Hereditary fructose intolerance in a patient with phenylketonuria [PDF]

The Turkish Journal of Pediatrics, 1991
Classical phenylketonuria (PKU) and hereditary fructose intolerance (HFI) are two inborn errors of metabolism that have an autosomal recessive mode of inheritance. In this paper, we described a 3-year-old girl with PKU and HFI.
T Coşkun, I Ozalp, G Tekinalp
doaj   +1 more source

Endogenous Fructose Production and Metabolism Drive Metabolic Dysregulation and Liver Disease in Mice with Hereditary Fructose Intolerance. [PDF]

Nutrients, 2023
Excessive intake of sugar, and particularly fructose, is closely associated with the development and progression of metabolic syndrome in humans and animal models. However, genetic disorders in fructose metabolism have very different consequences.
Andres-Hernando A, Orlicky DJ, Kuwabara M, Cicerchi C, Pedler M, Petrash MJ, Johnson RJ, Tolan DR, Lanaspa MA.   +8 more
europepmc   +2 more sources

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance. [PDF]

J Clin Med, 2021
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for
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, Martínez Chicano D, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Vitoria Miñana I, de Las Heras J.   +21 more
europepmc   +3 more sources

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   +3 more sources

Anesthetic management of a patient with hereditary fructose intolerance and phenylketonuria [PDF]

The Turkish Journal of Pediatrics, 1993
This is a report of a five-year-old girl with phenylketonuria (PKU) and hereditary fructose intolerance (HFI) who underwent elective strabismus surgery.
V Celiker, O Dural, K Erdem
doaj   +1 more source

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

Fructose transporters GLUT5 and GLUT2 expression in adult patients with fructose intolerance [PDF]

United European Gastroenterology Journal, 2014
Ronaldo Ferraris, Clive Wilder-Smith
exaly   +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