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2. A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. Peduto A; Spada M; Alluto A; La Dolcetta M; Ponzone A; Santer R J Inherit Metab Dis; 2004; 27(2):279-80. PubMed ID: 15243984 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. The Fanconi-Bickel syndrome: a case of neonatal onset. Riva S; Ghisalberti C; Parini R; Furlan F; Bettinelli A; Somaschini M J Perinatol; 2004 May; 24(5):322-3. PubMed ID: 15116130 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. [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]
9. 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]
10. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. Yoo HW; Shin YL; Seo EJ; Kim GH Eur J Pediatr; 2002 Jun; 161(6):351-3. PubMed ID: 12029458 [TBL] [Abstract][Full Text] [Related]
11. [Diagnostic and differential-diagnostic difficulties in metabolic disorders (in the light of an observed case)]. Iwańczak F Pediatr Pol; 1982; 57(7-8):573-8. PubMed ID: 6963393 [No Abstract] [Full Text] [Related]
14. Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. Setoodeh A; Rabbani A Acta Med Iran; 2012; 50(12):836-8. PubMed ID: 23456528 [TBL] [Abstract][Full Text] [Related]
15. Galactosaemia - should it be screened in newborns? Bosch AM Dev Period Med; 2018; 22(3):221-224. PubMed ID: 30281516 [No Abstract] [Full Text] [Related]
16. Mitochondrial myopathy, Fanconi syndrome with impaired glycogen and galactose metabolism. Hurvitz H; Kerem E; Elpeleg ON; Barash V; Klar A; Mor C; Branski D Prog Clin Biol Res; 1989; 306():143-8. PubMed ID: 2740408 [No Abstract] [Full Text] [Related]
17. Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. Furlan F; Santer R; Vismara E; Santus F; Sersale G; Menni F; Parini R J Inherit Metab Dis; 2006 Oct; 29(5):685. PubMed ID: 16906471 [TBL] [Abstract][Full Text] [Related]