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4. Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Santer R; Schneppenheim R; Suter D; Schaub J; Steinmann B Eur J Pediatr; 1998 Oct; 157(10):783-97. PubMed ID: 9809815 [TBL] [Abstract][Full Text] [Related]
5. Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). Sahin F; Sipahi T; Doğan H; Oksal A; Ertan U Arch Pediatr Adolesc Med; 2000 Nov; 154(11):1165-6. PubMed ID: 11074862 [No Abstract] [Full Text] [Related]
6. Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline. Baqai K; Bassetti JA; Kovanlikaya A; Seshan SV; Akchurin O Pediatr Nephrol; 2024 Nov; 39(11):3201-3204. PubMed ID: 38847860 [TBL] [Abstract][Full Text] [Related]
7. Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL. Pronicka E; Rowińska E; Miłoszewska E J Inherit Metab Dis; 1987; 10(3):270. PubMed ID: 3123787 [No Abstract] [Full Text] [Related]
8. Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. Mihout F; Devuyst O; Bensman A; Brocheriou I; Ridel C; Wagner CA; Mohebbi N; Boffa JJ; Plaisier E; Ronco P Nephrol Dial Transplant; 2014 Sep; 29 Suppl 4():iv113-6. PubMed ID: 25165176 [TBL] [Abstract][Full Text] [Related]
9. Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. Gopalakrishnan A; Kumar M; Krishnamurthy S; Sakamoto O; Srinivasan S Clin Exp Nephrol; 2011 Oct; 15(5):745-748. PubMed ID: 21625891 [TBL] [Abstract][Full Text] [Related]
11. Hepatocellular Carcinoma in Fanconi-Bickel Syndrome. Pogoriler J; O'Neill AF; Voss SD; Shamberger RC; Perez-Atayde AR Pediatr Dev Pathol; 2018; 21(1):84-90. PubMed ID: 28382841 [TBL] [Abstract][Full Text] [Related]
12. [Glycogenosis of the liver with galactose utilization disorder and a severe Fanconi syndrome]. Lampert F; Mayer H Z Kinderheilkd; 1967; 98(2):133-45. PubMed ID: 5230448 [No Abstract] [Full Text] [Related]
13. The Fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactose. Garty R; Cooper M; Tabachnik E J Pediatr; 1974 Dec; 85(6):821-3. PubMed ID: 4529611 [No Abstract] [Full Text] [Related]
14. [The Fanconi-Bickel syndrome: one more case]. Ruffa G; Ferrando M; Sbolgi P; Bartolozzi G; Lavia N Minerva Pediatr; 1992 Jun; 44(6):313-8. PubMed ID: 1635533 [TBL] [Abstract][Full Text] [Related]
15. Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. Lee PJ; Van't Hoff WG; Leonard JV J Inherit Metab Dis; 1995; 18(2):153-6. PubMed ID: 7564233 [No Abstract] [Full Text] [Related]
16. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. Burwinkel B; Sanjad SA; Al-Sabban E; Al-Abbad A; Kilimann MW Hum Genet; 1999 Sep; 105(3):240-3. PubMed ID: 10987651 [TBL] [Abstract][Full Text] [Related]
17. A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. Simşek E; Savaş-Erdeve S; Sakamoto O; Doğanci T; Dallar Y Turk J Pediatr; 2009; 51(2):166-8. PubMed ID: 19480329 [TBL] [Abstract][Full Text] [Related]
18. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Santer R; Schneppenheim R; Dombrowski A; Götze H; Steinmann B; Schaub J Nat Genet; 1997 Nov; 17(3):324-6. PubMed ID: 9354798 [TBL] [Abstract][Full Text] [Related]
19. Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. Brivet M; Moatti N; Corriat A; Lemonnier A; Odievre M Pediatr Res; 1983 Feb; 17(2):157-61. PubMed ID: 6572355 [TBL] [Abstract][Full Text] [Related]
20. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome. Pennisi A; Maranda B; Benoist JF; Baudouin V; Rigal O; Pichard S; Santer R; Romana Lepri F; Novelli A; Ogier de Baulny H; Dionisi-Vici C; Schiff M J Inherit Metab Dis; 2020 May; 43(3):540-548. PubMed ID: 31816104 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]