Research & Literature

Revisiting the physiological roles of SGLTs and GLUTs using positron emission tomography in mice.

Sala-Rabanal M, Hirayama BA, Ghezzi C, et al.

The Journal of physiology 2016; (594(15)):4425-38 doi:10.1113/JP271904.

Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.

Dweikat IM, Alawneh IS, Bahar SF, Sultan MI

BMC research notes 2016; (9()):387 doi:10.1186/s13104-016-2184-2.

Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome.

Bahíllo-Curieses MP, Garrote-Molpeceres R, Miñambres-Rodríguez M, et al.

Pediatric diabetes 2018; (19(1)):180-183 doi:10.1111/pedi.12531.

Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.

Şeker-Yılmaz B, Kör D, Bulut FD, et al.

The Turkish journal of pediatrics 2017; (59(4)):434-441.

Freeman-Burian syndrome.

Poling MI, Dufresne CR, Chamberlain RL

Orphanet journal of rare diseases 2019; (14(1)):14 doi:10.1186/s13023-018-0984-2.

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.

Enogieru OJ, Ung PMU, Yee SW, et al.

Human mutation 2019; (40(7)):983-995 doi:10.1002/humu.23758.

Management of hypoglycemia in newborn: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report.

Aliefendioğlu D, Çoban A, Hatipoğlu N, et al.

Turk pediatri arsivi 2018; (53(Suppl 1)):S224-S233 doi:10.5152/TurkPediatriArs.2018.01820.

Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant.

Batool H, Zubaida B, Hashmi MA, Naeem M

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(11)):1229-1233.

Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.

Yavarow ZA, Kang HR, Waskowicz LR, et al.

Human molecular genetics 2020; (29(2)):286-294 doi:10.1093/hmg/ddz290.

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.

Pennisi A, Maranda B, Benoist JF, et al.

Journal of inherited metabolic disease 2020; (43(3)):540-548 doi:10.1002/jimd.12203.

Glucose transporters in the kidney in health and disease.

Vallon V

Pflugers Archiv : European journal of physiology 2020; (472(9)):1345-1370 doi:10.1007/s00424-020-02361-w.

Glucose transporters in adipose tissue, liver, and skeletal muscle in metabolic health and disease.

Chadt A, Al-Hasani H

Pflugers Archiv : European journal of physiology 2020; (472(9)):1273-1298 doi:10.1007/s00424-020-02417-x.

Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.

Sharari S, Abou-Alloul M, Hussain K, Ahmad Khan F

International journal of molecular sciences 2020; (21(17)) doi:10.3390/ijms21176286.

Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children.

Musa SA, Ibrahim AA, Hassan SS, et al.

International journal of pediatric endocrinology 2020; (2020(1)):21 doi:10.1186/s13633-020-00091-5.

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.

Eghbali M, Fatemi KS, Salehpour S, et al.

Frontiers in genetics 2020; (11()):601566 doi:10.3389/fgene.2020.601566.

Identification of new GLUT2-selective inhibitors through in silico ligand screening and validation in eukaryotic expression systems.

Schmidl S, Ursu O, Iancu CV, et al.

Scientific reports 2021; (11(1)):13751 doi:10.1038/s41598-021-93063-5.

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.

Grünert SC, Schumann A, Baronio F, et al.

Genes 2021; (12(11)) doi:10.3390/genes12111785.

Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature.

Xu N, Han X, Zhang Y, et al.

Arthritis research & therapy 2022; (24(1)):58 doi:10.1186/s13075-021-02706-5.

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A

Orphanet journal of rare diseases 2022; (17(1)):241 doi:10.1186/s13023-022-02387-6.

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia.

Chen H, Lyu JJ, Huang Z, et al.

Frontiers in pediatrics 2022; (10()):897636 doi:10.3389/fped.2022.897636.

A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.

Rossi A, Venema A, Haarsma P, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(9)):e3612-e3623 doi:10.1210/clinem/dgac411.

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review.

Rossi A, Rutten MGS, van Dijk TH, et al.

Frontiers in endocrinology 2022; (13()):858832 doi:10.3389/fendo.2022.858832.

Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.

Demczko MM, Liu TT, Napoli JA

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(9)):1201-1205 doi:10.1515/jpem-2022-0150.

Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.

Govindarajan S, Khandelwal P, Sharma S, et al.

Indian journal of pediatrics 2023; (90(2)):178-180 doi:10.1007/s12098-022-04372-0.

The role of GLUT2 in glucose metabolism in multiple organs and tissues.

Sun B, Chen H, Xue J, et al.

Molecular biology reports 2023; (50(8)):6963-6974 doi:10.1007/s11033-023-08535-w.

The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI.

Trepiccione F, Iervolino A, D'Acierno M, et al.

Science translational medicine 2023; (15(720)):eabn4214 doi:10.1126/scitranslmed.abn4214.

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.

Grünert SC, Derks TGJ, Mundy H, et al.

Molecular genetics and metabolism 2024; (141(3)):108144 doi:10.1016/j.ymgme.2024.108144.

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

Du T, Xia Y, Sun C, et al.

Orphanet journal of rare diseases 2024; (19(1)):75 doi:10.1186/s13023-024-03070-8.

Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome.

Abarca-Barriga HH, Laso-Salazar MC, Orihuela-Tacuri D, et al.

BMC pediatrics 2024; (24(1)):161 doi:10.1186/s12887-024-04641-1.

Presentation and Management of Acute Mania in Fanconi-Bickel Syndrome, A Metabolic Genetic Disorder.

Chen APF, Russell G, Ashour A, Yacoub A

Case reports in psychiatry 2024; (2024()):5593846 doi:10.1155/2024/5593846.

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.

Overduin RJ, Grünert SC, Besouw MTP, et al.

Journal of inherited metabolic disease 2024; (47(5)):1018-1027 doi:10.1002/jimd.12752.

Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.

Baqai K, Bassetti JA, Kovanlikaya A, et al.

Pediatric nephrology (Berlin, Germany) 2024; (39(11)):3201-3204 doi:10.1007/s00467-024-06388-4.

Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel Syndrome.

Hodrob T, Abusalameh A, Ismail I, et al.

Clinical genetics 2025; (107(3)):335-340 doi:10.1111/cge.14648.

Management of Dysglycemia in a Pregnancy Complicated by Fanconi-Bickel Syndrome.

Szmuilowicz ED, Fruzyna E, Madden N, et al.

AACE clinical case reports 2024; (10(6)):224-228 doi:10.1016/j.aace.2024.07.008.

Integral kidney function assessment in pediatric patients with glycogen storage diseases.

Reyes-Apodaca M, Consuelo-Sánchez A, Vázquez-Frias R, et al.

Frontiers in pediatrics 2025; (13()):1543164 doi:10.3389/fped.2025.1543164.

A Novel Mutation of Fanconi-Bickel Syndrome: A Case Report.

Shankar M, Shankar D, K VS, Sreedhara CG

The Journal of the Association of Physicians of India 2025; (73(9S)):58-60 doi:10.59556/japi.73.1005.

Multidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature.

Abu Jabal K, Beiruti Wiegler K, Sgayer I, et al.

International medical case reports journal 2025; (18()):1237-1245 doi:10.2147/IMCRJ.S531843.

Identification of an unusual variant of Fanconi-Bickel syndrome presenting as proximal tubulopathy and short stature.

Roque do Vale Afonso M, Nunes P, M Travessa A

BMJ case reports 2026; (19(1)) doi:10.1136/bcr-2025-266997.

A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares.

İdrisoğlu MF, Kazar Hakgör N, Ertürk B, Çakar NE

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(10)):1076-1079 doi:10.1515/jpem-2025-0654.