Literature DB >> 27738794

Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.

Moirangthem Amita1, Priyanka Srivastava1, Kausik Mandal2, Sudarsana De3, Shubha R Phadke1.   

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Year:  2016        PMID： 27738794     DOI： 10.1007/s12098-016-2236-6

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Authors:  René Santer; Sebastian Groth; Martina Kinner; Anja Dombrowski; Gerard T Berry; Johannes Brodehl; James V Leonard; Shimon Moses; Svante Norgren; Flemming Skovby; Reinhard Schneppenheim; Beat Steinmann; Jürgen Schaub
Journal:  Hum Genet       Date:  2001-11-17       Impact factor: 4.132

2.  Fanconi- Bickel Syndrome: mutation in an Indian patient.

Authors:  Alka Venkatesh Ekbote; Kausik Mandal; Indira Agarwal; Rajiv Sinha; Sumita Danda
Journal:  Indian J Pediatr       Date:  2011-10-05       Impact factor: 1.967

3.  Fanconi-Bickel syndrome.

Authors:  Osamu Sakamoto; Sujatha Jagadeesh; Sheela Nampoothiri
Journal:  Indian J Pediatr       Date:  2011-02-15       Impact factor: 1.967

4.  Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.

Authors:  Mohammad Al-Haggar; Osamu Sakamoto; Ali Shaltout; Amani Al-Hawari; Yahya Wahba; Dina Abdel-Hadi
Journal:  Clin Exp Nephrol       Date:  2012-02-18       Impact factor: 2.801

5.  Fanconi-Bickel syndrome - mutation in SLC2A2 gene.

Authors:  Mohit Kehar; Sunita Bijarnia; Sian Ellard; Jayne Houghton; Renu Saxena; I C Verma; Nishant Wadhwa
Journal:  Indian J Pediatr       Date:  2014-06-10       Impact factor: 1.967
  5 in total
  4 in total

1.  Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.

Authors:  Osatohanmwen J Enogieru; Peter M U Ung; Sook Wah Yee; Avner Schlessinger; Kathleen M Giacomini
Journal:  Hum Mutat       Date:  2019-04-25       Impact factor: 4.878

2.  Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.

Authors:  Rajiv Sinha; Subal Pradhan; Sushmita Banerjee; Afsana Jahan; Shakil Akhtar; Amitava Pahari; Sumantra Raut; Prince Parakh; Surupa Basu; Priyanka Srivastava; Snehamayee Nayak; S G Thenral; V Ramprasad; Emma Ashton; Detlef Bockenhauer; Kausik Mandal
Journal:  Pediatr Nephrol       Date:  2022-01-10       Impact factor: 3.651

3.  Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature.

Authors:  Li-Jing Xiong; Mao-Ling Jiang; Li-Na Du; Lan Yuan; Xiao-Li Xie
Journal:  World J Clin Cases       Date:  2020-11-06       Impact factor: 1.337

Review 4.  Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.

Authors:  Sanaa Sharari; Mohamad Abou-Alloul; Khalid Hussain; Faiyaz Ahmad Khan
Journal:  Int J Mol Sci       Date:  2020-08-31       Impact factor: 5.923
  4 in total

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