Research & Literature

Evaluation of the In Vivo and In Vitro Effects of Fructose on Respiratory Chain Complexes in Tissues of Young Rats.

Macongonde EA, Vilela TC, Scaini G, et al.

Disease markers 2015; (2015()):312530 doi:10.1155/2015/312530.

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Ferreira CR, Devaney JM, Hofherr SE, et al.

American journal of medical genetics. Part A 2017; (173(2)):501-509 doi:10.1002/ajmg.a.38023.

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Li H, Byers HM, Diaz-Kuan A, et al.

Molecular genetics and metabolism 2018; (123(4)):428-432 doi:10.1016/j.ymgme.2018.02.016.

Ketohexokinase C blockade ameliorates fructose-induced metabolic dysfunction in fructose-sensitive mice.

Lanaspa MA, Andres-Hernando A, Orlicky DJ, et al.

The Journal of clinical investigation 2018; (128(6)):2226-2238.

When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report.

Da Lozzo P, Magnolato A, Del Rizzo I, et al.

The Journal of adolescent health : official publication of the Society for Adolescent Medicine 2019; (64(1)):137-138 doi:10.1016/j.jadohealth.2018.07.014.

Non-alcoholic fatty liver in hereditary fructose intolerance.

Aldámiz-Echevarría L, de Las Heras J, Couce ML, et al.

Clinical nutrition (Edinburgh, Scotland) 2020; (39(2)):455-459 doi:10.1016/j.clnu.2019.02.019.

Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.

Simons N, Debray FG, Schaper NC, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(11)):5056-5064 doi:10.1210/jc.2018-02795.

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.

Di Dato F, Spadarella S, Puoti MG, et al.

Nutrients 2019; (11(10)) doi:10.3390/nu11102397.

Kidney and vascular function in adult patients with hereditary fructose intolerance.

Simons N, Debray FG, Schaper NC, et al.

Molecular genetics and metabolism reports 2020; (23()):100600 doi:10.1016/j.ymgmr.2020.100600.

KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword.

Pinheiro FC, Sperb-Ludwig F, Schwartz IVD

Cellular and molecular life sciences : CMLS 2020; (77(17)):3465-3466 doi:10.1007/s00018-020-03575-y.

Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.

Kim AY, Hughes JJ, Pipitone Dempsey A, et al.

Pediatrics 2020; (146(2)) doi:10.1542/peds.2019-3324.

Safety of vaccines administration in hereditary fructose intolerance.

Maiorana A, Sabia A, Corsetti T, Dionisi-Vici C

Orphanet journal of rare diseases 2020; (15(1)):274 doi:10.1186/s13023-020-01552-z.

Hereditary Fructose Intolerance Diagnosed in Adulthood.

Kim MS, Moon JS, Kim MJ, et al.

Gut and liver 2021; (15(1)):142-145 doi:10.5009/gnl20189.

Safety of Sars-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance.

Urru SAM, Maines E, Campomori A, Soffiati M

Human vaccines & immunotherapeutics 2021; (17(11)):4112-4114 doi:10.1080/21645515.2021.1943992.

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

Cano A, Alcalde C, Belanger-Quintana A, et al.

Journal of clinical medicine 2021; (10(13)) doi:10.3390/jcm10132932.

Epidemiological aspects of hereditary fructose intolerance: A database study.

Pinheiro FC, Sperb-Ludwig F, Schwartz IVD

Human mutation 2021; (42(12)):1548-1566 doi:10.1002/humu.24282.

Reply letter to the editor concerning the article 'Safety of Sars-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance'.

Izquierdo-Garcia E, Alvaro Alonso EA, Montero Pastor B, et al.

Human vaccines & immunotherapeutics 2022; (18(5)):2051414 doi:10.1080/21645515.2022.2051414.

Vitamin C and folate status in hereditary fructose intolerance.

Cano A, Alcalde C, Belanger-Quintana A, et al.

European journal of clinical nutrition 2022; (76(12)):1733-1739 doi:10.1038/s41430-022-01178-3.

Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing.

Lee J, Arenth J, Kasi N

JPGN reports 2021; (2(2)):e076 doi:10.1097/PG9.0000000000000076.

Development of tools to facilitate the diagnosis of hereditary fructose intolerance.

Panis B, Janssen LEF, Lefeber DJ, et al.

JIMD reports 2023; (64(5)):353-359 doi:10.1002/jmd2.12379.

Quality of life of adult patients with hereditary fructose intolerance.

Janssen LEF, Cassiman D, Brouwers MCGJ

Molecular genetics and metabolism 2023; (140(3)):107701 doi:10.1016/j.ymgme.2023.107701.

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

Andres-Hernando A, Orlicky DJ, Kuwabara M, et al.

Nutrients 2023; (15(20)) doi:10.3390/nu15204376.

Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance.

Izquierdo-García E, Lázaro-Cebas A, Montero Pastor B, et al.

Orphanet journal of rare diseases 2024; (19(1)):12 doi:10.1186/s13023-023-03011-x.

Hepatic glucokinase regulatory protein and carbohydrate response element binding protein attenuation reduce de novo lipogenesis but do not mitigate intrahepatic triglyceride accumulation in Aldob deficiency.

Buziau AM, Oosterveer MH, Wouters K, et al.

Molecular metabolism 2024; (87()):101984 doi:10.1016/j.molmet.2024.101984.

The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.

Maines E, Gugelmo G, Maiorana A, et al.

Journal of diabetes and metabolic disorders 2025; (24(1)):27 doi:10.1007/s40200-024-01527-y.

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

Fulham MA, Griffin JD, Perez S, et al.

Molecular metabolism 2026; (104()):102310 doi:10.1016/j.molmet.2025.102310.