Results 21 to 30 of about 1,659 (139)

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

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

Vaccination strategies for people living with inborn errors of metabolism in Brazil

Jornal de Pediatria, 2023
Objective: Through a literature review, make recommendations regarding immunizations in people living with Inborn Error of Metabolism (IEM) in Brazil, assess the possible impact on metabolic decompensations after immunization, and if this specific ...
Barbara C.F. Ramos, Carolina S. Aranda, Rita S.B. Cardona, Ana Maria Martins, Dirceu Solé, Sue Ann C. Clemens, Ralf Clemens   +6 more
doaj   +1 more source

Corrigendum: Unmet Psychosocial Needs of Patients Newly Diagnosed with Ulcerative Colitis: Results from the Nationwide Prospective Cohort Study in Korea

Gut and Liver, 2021
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic
Jung Rock Moon, Chang Kyun Lee, Sung Noh Hong, Jong Pil Im, Byong Duk Ye, Jae Myung Cha, Sung-Ae Jung, Kang-Moon Lee, Dong Il Park, Yoon Tae Jeen, Young Sook Park, Jae Hee Cheon, Hyesung Kim, BoJeong Seo, Youngdoe Kim, Hyo Jong Kim, the MOSAIK study group of the Korean Association for the Study of Intestinal Diseases (KASID)   +16 more
doaj   +1 more source

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P, other members of the expert group consortium.   +25 more
europepmc   +2 more sources

Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene

SAGE Open Medical Case Reports, 2019
Hereditary fructose intolerance, caused by mutations in the ALDOB gene, is an unusual cause of hypoglycemia. ALDOB encodes the enzyme aldolase B, responsible for the hydrolysis of fructose 1-phosphate in the liver.
Martha Catalina Morales-Alvarez, Maria Laura Ricardo-Silgado, Hernan Nicolas Lemus, Deyanira González-Devia, Carlos O Mendivil   +4 more
doaj   +1 more source

Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study

JHEP Reports, 2023
Background & Aims: Lean patients with non-alcoholic fatty liver disease (NAFLD) represent 10–20% of the affected population and may have heterogeneous drivers of disease.
Melanie Zheng, Daniel Q. Huang, Chigoziri Konkwo, Saaket Agrawal, Amit V. Khera, Rohit Loomba, Sílvia Vilarinho, Veeral Ajmera   +7 more
doaj   +1 more source