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Journal Abstract Search

197 related items for PubMed ID: 9809815

  • 21. 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
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  • 22. 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
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  • 23. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
    Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H.
    J Clin Endocrinol Metab; 2012 Oct; 97(10):E1978-86. PubMed ID: 22865906
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  • 25. Fanconi- Bickel Syndrome: mutation in an Indian patient.
    Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S.
    Indian J Pediatr; 2012 Jun; 79(6):810-2. PubMed ID: 21972075
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  • 26. Fanconi-Bickel syndrome.
    Manz F, Bickel H, Brodehl J, Feist D, Gellissen K, Geschöll-Bauer B, Gilli G, Harms E, Helwig H, Nützenadel W.
    Pediatr Nephrol; 1987 Jul; 1(3):509-18. PubMed ID: 3153325
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  • 28. [SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].
    Wang W, Wei M, Song HM, Qiu ZQ, Zhang LJ, Li Z, Tang XY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Apr; 17(4):362-6. PubMed ID: 25919556
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  • 31. 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
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  • 33. An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation.
    Dayal D, Dekate P, Sharda S, Das A, Attri S.
    J Pediatr Genet; 2013 Jun; 2(2):109-12. PubMed ID: 27625848
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  • 35. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
    Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA.
    Clin Genet; 2007 Jun; 71(6):551-7. PubMed ID: 17539904
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  • 37. Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
    Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W.
    Orphanet J Rare Dis; 2024 Feb 16; 19(1):75. PubMed ID: 38365697
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  • 40. Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
    Enogieru OJ, Ung PMU, Yee SW, Schlessinger A, Giacomini KM.
    Hum Mutat; 2019 Jul 16; 40(7):983-995. PubMed ID: 30950137
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