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Journal Abstract Search

135 related items for PubMed ID: 36324017

  • 1. Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.
    Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A.
    Indian J Pediatr; 2023 Feb; 90(2):178-180. PubMed ID: 36324017
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  • 3. 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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  • 6. 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 16; 43(3):540-548. PubMed ID: 31816104
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  • 7. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Turk J Pediatr; 2005 May 16; 47(2):167-9. PubMed ID: 16052858
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  • 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, Chirinos-Saire J, Venero-Nuñez A.
    BMC Pediatr; 2024 Mar 07; 24(1):161. PubMed ID: 38454379
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  • 10. Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
    Su Z, Du ML, Chen HS, Chen QL, Yu CS, Mal HM.
    J Pediatr Endocrinol Metab; 2011 Mar 07; 24(9-10):749-53. PubMed ID: 22145468
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  • 15. 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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  • 17. Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
    Setoodeh A, Rabbani A.
    Acta Med Iran; 2012 Feb 15; 50(12):836-8. PubMed ID: 23456528
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  • 20. Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
    Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R.
    Am J Med Genet A; 2021 Feb 15; 185(2):566-570. PubMed ID: 33251707
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