Hereditary Fructose Intolerance
What's New
Last Posted: Mar 28, 2023
- Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.
Zheng Melanie, et al. JHEP reports : innovation in hepatology 2023 0 (4) 100692 - Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance.
Beyzaei Zahra, et al. Journal of pediatric endocrinology & metabolism : JPEM 2023 0 (3) 331-334 - Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.
Di Dato Fabiola, et al. Nutrients 2019 0 (10) - Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.
Gunduz Mehmet, et al. Journal of pediatric endocrinology & metabolism : JPEM 2021 0 (8) 1017-1022 - Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance.
Debray François-Guillaume, et al. Clinical nutrition (Edinburgh, Scotland) 2021 0 (6) 4246-4254 - Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang Meiling, et al. Orphanet journal of rare diseases 2022 0 (1) 326 - Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
Bijarnia-Mahay Sunita, et al. JIMD reports 2015 0 85-93 - Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.
Kim Alexander Y et al. Pediatrics 2020 Jul - CLINGEN Actionability Report for Hereditary fructose intolerance-ALDOB
ClinGen Actionability Working Group - Hereditary fructose intolerance
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
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- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 08, 2024
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