Results 11 to 20 of about 10,113 (191)

Safety of vaccines administration in hereditary fructose intolerance [PDF]

Orphanet Journal of Rare Diseases, 2020
Patients with hereditary fructose intolerance need to follow a life-long fructose dietary and drug restriction to prevent symptoms of intoxication. Concerns about vaccines administration have been manifested overtime, for the risk of a life-threatening ...
Arianna Maiorana, Antonella Sabia, Tiziana Corsetti, Carlo Dionisi-Vici   +3 more
doaj   +2 more sources

Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance [PDF]

Italian Journal of Pediatrics, 2012
We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy.
Paolella Giulia, Pisano Pasquale, Albano Raffaele, Cannaviello Lucio, Mauro Carolina, Esposito Gabriella, Vajro Pietro   +6 more
doaj   +2 more sources

Development of tools to facilitate the diagnosis of hereditary fructose intolerance [PDF]

JIMD Reports, 2023
Although hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism that classically presents at infancy, the diagnosis is often missed or delayed. In this study, we aimed to develop tools to facilitate the diagnosis of HFI.
Bianca Panis, Lise E. F. Janssen, Dirk J. Lefeber, Nynke Simons, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers   +5 more
doaj   +2 more sources

Estimation of hereditary fructose intolerance prevalence in the Chinese population [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and ...
Meiling Tang, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang, Zhaoqing Yin, Wenhao Zhou, Xinran Dong   +8 more
doaj   +2 more sources

Unmasking Hereditary Fructose Intolerance: Turning a Rare Diagnosis Into a Path for Healing [PDF]

Clinical Case Reports
Early diagnosis of children with hereditary fructose intolerance, which can be achieved by proper history taking, thorough clinical examination, response to diet, and histopathological examination, followed by effective management with a lifelong ...
Rajat Kumar Shah, Sajjad Ahmed Khan, Bijita Aryal, Aakash Khatiwada, Binita Gurubacharya, Shamin Parajuli   +5 more
doaj   +2 more sources

Impaired hepatic metabolism in Hereditary Fructose Intolerance confers fructose-independent risk for steatosis and hypertriglyceridemia [PDF]

Molecular Metabolism
Objectives: Hereditary fructose intolerance (HFI), caused by Aldolase B deficiency, is a rare genetic disorder where fructose exposure leads to severe metabolic pathologies including Type-2 diabetes and liver steatosis.
Melissa A. Fulham, John D. Griffin, Sylvie Perez, Zhongyuan Sun, Natalie A. Daurio, Gang Xing, Michelle F. Clasquin, Melissa R. Miller, Craig L. Hyde, Scott P. Kelly, Magalie Boucher, Rachel Poskanzer, Ramya Gamini, Evanthia Pashos, Ying Zhang, Elaine Kuang, Josh Fienman, Kendra K. Bence, Gregory J. Tesz   +18 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
  +10 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

Dietary fructose intolerance, fructan intolerance and FODMAPs. [PDF]

Curr Gastroenterol Rep, 2014
Dietary intolerances to fructose, fructans and FODMAPs (fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) are common, yet poorly recognized and managed. Over the last decade, they have come to the forefront because of new knowledge on the mechanisms and treatment of these conditions.
Fedewa A, Rao SS.
europepmc   +4 more sources

Hereditary Fructose Intolerance

Zdorovʹe Rebenka, 2014
Hereditary fructose intolerance, the prevalence of which is 1 : 20,000 population, is diagnosed much less frequently than is found in child and adult populations.
N.V. Nagornaya, Ye.V. Bordyugova, А.P. Dudchak, А.P. Koval   +3 more
doaj   +4 more sources