Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene (vol 81, pg 1237, 2016)

被引:0
|
作者
Kehar, Mohit [1 ]
Bijarnia, Sunita [2 ]
Ellard, Sian [3 ,4 ]
Houghton, Jayne [3 ]
Saxena, Renu [2 ]
Verma, I. C. [2 ]
Wadhwa, Nishant [1 ]
机构
[1] Sir Ganga Ram Hosp, Div Pediat Gastroenterol & Hepatol, New Delhi, India
[2] Sir Ganga Ram Hosp, Ctr Med Genet, New Delhi 110060, India
[3] Royal Devon & Exeter NHS, Fdn Trust, Dept Mol Genet, Exeter EX2 5AD, Devon, England
[4] Univ Exeter, Inst Biomed & Clin Sci, Sch Med, Exeter EX2 5DW, Devon, England
来源
INDIAN JOURNAL OF PEDIATRICS | 2016年 / 83卷 / 11期
关键词
D O I
10.1007/s12098-016-2197-9
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1362 / 1362
页数:1
相关论文
共 50 条
  • [31] Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering
    Al-Haggar, Mohammad
    Sakamoto, Osamu
    Shaltout, Ali
    Al-Hawari, Amani
    Wahba, Yahya
    Abdel-Hadi, Dina
    CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2012, 16 (04) : 604 - 610
  • [32] Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia
    Han-Wook Yoo
    Young-Lim Shin
    Eul-Ju Seo
    Gu-Hwan Kim
    European Journal of Pediatrics, 2002, 161 : 351 - 353
  • [33] 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
    EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (06) : 351 - 353
  • [34] Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi-Bickel Syndrome
    Sharari, Sanaa
    Kabeer, Basirudeen
    Mohammed, Idris
    Haris, Basma
    Pavlovski, Igor
    Hawari, Iman
    Bhat, Ajaz Ahmad
    Toufiq, Mohammed
    Tomei, Sara
    Mathew, Rebecca
    Syed, Najeeb
    Nisar, Sabah
    Maacha, Selma
    Grivel, Jean-Charles
    Chaussabel, Damien
    Ericsson, Johan
    Hussain, Khalid
    BIOMEDICINES, 2022, 10 (09)
  • [35] A Novel Deletion Mutation in the GLUT 2 Gene in a Patient with Fanconi Bickel Syndrome
    Noorian, Shahab
    Aghamahdi, Fatemeh
    Rad, Samira Saee
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 200 - 200
  • [36] Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype
    Gruenert, Sarah Catharina
    Schwab, Karl Otfried
    Pohl, Martin
    Sass, Joern Oliver
    Santer, Rene
    MOLECULAR GENETICS AND METABOLISM, 2012, 105 (03) : 433 - 437
  • [37] Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome (vol 17, pg 324, 1997)
    Santer, R
    Schneppenheim, R
    Dombrowski, A
    Götze, H
    Steinmann, B
    Schaub, J
    NATURE GENETICS, 1998, 18 (03) : 298 - 298
  • [38] SGLT2 inhibitors as a treatment for Fanconi-Bickel syndrome: a case report
    D'ambrosio, Viola
    Wan, Elizabeth
    Siew, Keith
    Ferraro, Pietro Manuel
    Walsh, Stephen
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39
  • [39] SGLT2 inhibitors as a treatment for Fanconi-Bickel syndrome: a case report
    D'ambrosio, Viola
    Wan, Elizabeth
    Siew, Keith
    Ferraro, Pietro Manuel
    Walsh, Stephen
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I428 - I429
  • [40] Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
    Santer, R
    Schneppenheim, R
    Dombrowski, A
    Gotze, H
    Steinmann, B
    Schaub, J
    NATURE GENETICS, 1997, 17 (03) : 324 - 326