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Journal Abstract Search

239 related items for PubMed ID: 22660720

  • 21. Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient.
    Sharari S, Aouida M, Mohammed I, Haris B, Bhat AA, Hawari I, Nisar S, Pavlovski I, Biswas KH, Syed N, Maacha S, Grivel JC, Saifaldeen M, Ericsson J, Hussain K.
    Front Endocrinol (Lausanne); 2022; 13():841788. PubMed ID: 35663312
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  • 22. Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.
    Khandelwal P, Sinha A, Jain V, Houghton J, Hari P, Bagga A.
    CEN Case Rep; 2018 May; 7(1):1-4. PubMed ID: 29116606
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  • 23. 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
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  • 24. 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. Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.
    Abbasi F, Azizi F, Javaheri M, Mosallanejad A, Ebrahim-Habibi A, Ghafouri-Fard S.
    Gene; 2015 Feb 15; 557(1):103-5. PubMed ID: 25523092
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  • 28. Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.
    Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S.
    Pediatr Diabetes; 2012 Sep 15; 13(6):499-505. PubMed ID: 22060631
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  • 29. Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
    Polak M, Cavé H.
    Orphanet J Rare Dis; 2007 Mar 09; 2():12. PubMed ID: 17349054
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  • 30. Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
    Deeb A, Habeb A, Kaplan W, Attia S, Hadi S, Osman A, Al-Jubeh J, Flanagan S, DeFranco E, Ellard S.
    Am J Med Genet A; 2016 Mar 09; 170(3):602-9. PubMed ID: 26463504
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  • 32. 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 09; 29 Suppl 4():iv113-6. PubMed ID: 25165176
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  • 34. Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
    Akagi M, Inui K, Nakajima S, Shima M, Nishigaki T, Muramatsu T, Kokubu C, Tsukamoto H, Sakai N, Okada S.
    J Hum Genet; 2000 Sep 09; 45(1):60-2. PubMed ID: 10697967
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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 09; 71(6):551-7. PubMed ID: 17539904
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  • 37. [Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh].
    Joller S, Stettler M, Locher I, Dettwiler M, Seefried F, Meylan M, Drögemüller C.
    Schweiz Arch Tierheilkd; 2018 Mar 09; 160(3):179-184. PubMed ID: 29509141
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  • 39. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.
    Amita M, Srivastava P, Mandal K, De S, Phadke SR.
    Indian J Pediatr; 2017 Mar 09; 84(3):236-237. PubMed ID: 27738794
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  • 40. 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 09; 161(6):351-3. PubMed ID: 12029458
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