Associated Papers
The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.
Maines E et al.
Journal of Diabetes and Metabolic Disorders, 2025
A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.
Garbowski L et al.
Journal of Clinical Medicine, 2024
Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.
Liu X et al.
Ginekologia Polska, 2024
An Infant With Hereditary Fructose Intolerance and a Novel Presentation of Disseminated Intravascular Coagulopathy Following Pyloromyotomy.
Aldag E et al.
Journal of Pediatric Hematology/oncology, 2022
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M et al.
Orphanet Journal of Rare Diseases, 2022
Hereditary fructose intolerance: A comprehensive review.
Singh SK et al.
World Journal of Clinical Pediatrics, 2022
Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption.
Taneva I et al.
Bmc Gastroenterology, 2022
Epidemiological aspects of hereditary fructose intolerance: A database study.
Pinheiro FC et al.
Human Mutation, 2021
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.
Gunduz M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
Hereditary Fructose Intolerance Diagnosed in Adulthood.
Kim MS et al.
Gut and Liver, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.
Di Dato F et al.
Nutrients, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 2015
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
Ferri L et al.
Jimd Reports, 2012
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Esposito G et al.
Human Mutation, 2010
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
Quintana E et al.
Journal of Inherited Metabolic Disease, 2009
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 2008
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.
Caciotti A et al.
European Journal of Gastroenterology & Hepatology, 2008
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
Gruchota J et al.
Molecular Genetics and Metabolism, 2006
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R et al.
Human Mutation, 2005
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
Esposito G et al.
Human Mutation, 2004
[Hereditary fructose intolerance: description of 2 cases with early onset].
Di Martino L et al.
La Pediatria, 1980