A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome

被引:0
|
作者
Masahiko Tsuda
Emiko Kitasawa
Hiroyuki Ida
Yoshikatsu Eto
Misao Owada
机构
[1] Department of Paediatrics,
[2] Nihon University School of Medicine,undefined
[3] Chiyoda,undefined
[4] Tokyo,undefined
[5] 101-8309 Japan,undefined
[6] Department of Paediatrics,undefined
[7] Jikei University School of Medicine,undefined
[8] Tokyo,undefined
[9] Japan,undefined
来源
关键词
Missense Mutation; GLUT2 Gene;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:867 / 867
相关论文
共 50 条
  • [31] A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis
    Tastemel-Ozturk, Tugba
    Bilginer-Gurbuz, Berrak
    Teksam, Ozlem
    Sivri, Serap
    TURKISH JOURNAL OF PEDIATRICS, 2017, 59 (06) : 693 - 695
  • [32] Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations
    Mannstadt, Michael
    Magen, Daniella
    Segawa, Hiroko
    Stanley, Takara
    Sharma, Amita
    Sasaki, Shohei
    Bergwitz, Clemens
    Mounien, Lourdes
    Boepple, Paul
    Thorens, Bernhard
    Zelikovic, Israel
    Jueppner, Harald
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (10): : E1978 - E1986
  • [33] Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation
    Shah, Ruchi
    Rao, Sudha
    Parikh, Ruchi
    Sophia, Tahir
    Khalid, Hussain
    INDIAN PEDIATRICS, 2016, 53 (09) : 829 - 830
  • [34] Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient
    Sharari, Sanaa
    Aouida, Mustapha
    Mohammed, Idris
    Haris, Basma
    Bhat, Ajaz Ahmad
    Hawari, Iman
    Nisar, Sabah
    Pavlovski, Igor
    Biswas, Kabir H.
    Syed, Najeeb
    Maacha, Selma
    Grivel, Jean-Charles
    Saifaldeen, Maryam
    Ericsson, Johan
    Hussain, Khalid
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [35] Fanconi Bickel Syndrome with hypercalciuria due to GLUT 2 mutation
    Shah R.
    Rao S.
    Parikh R.
    Sophia T.
    Khalid H.
    Indian Pediatrics, 2016, 53 (9) : 829 - 830
  • [36] 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
  • [37] Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2
    Amita, Moirangthem
    Srivastava, Priyanka
    Mandal, Kausik
    De, Sudarsana
    Phadke, Shubha R.
    INDIAN JOURNAL OF PEDIATRICS, 2017, 84 (03): : 236 - 237
  • [38] Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2
    Moirangthem Amita
    Priyanka Srivastava
    Kausik Mandal
    Sudarsana De
    Shubha R. Phadke
    The Indian Journal of Pediatrics, 2017, 84 : 236 - 237
  • [39] Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report
    Demczko, Matthew M.
    Liu, Tullis T.
    Napoli, Joseph A.
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (09): : 1201 - 1205
  • [40] Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome
    Motohiro Akagi
    Koji Inui
    Shigeo Nakajima
    Masaaki Shima
    Toshinori Nishigaki
    Takashi Muramatsu
    Chikara Kokubu
    Hiroko Tsukamoto
    Norio Sakai
    Shintaro Okada
    Journal of Human Genetics, 2000, 45 : 60 - 62