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Literature DB >> 23271022

A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri.

Zohreh Karamizadeh¹, Forough Saki, Mohammad Hadi Imanieh, Mojgan Zahmatkeshan, Majid Fardaee.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2012 PMID： 23271022 DOI： 10.1007/s12041-012-0198-7

Source DB: PubMed Journal: J Genet ISSN： 0022-1333 Impact factor: 1.166

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15 in total

1. A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.

Authors: A Peduto; M Spada; A Alluto; M La Dolcetta; A Ponzone; R Santer
Journal: J Inherit Metab Dis Date: 2004 Impact factor: 4.982

2. [Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease].

Authors: G FANCONI; H BICKEL
Journal: Helv Paediatr Acta Date: 1949-11

3. Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.

Authors: Arun Gopalakrishnan; Manish Kumar; Sriram Krishnamurthy; Osamu Sakamoto; Sadagopan Srinivasan
Journal: Clin Exp Nephrol Date: 2011-05-31 Impact factor: 2.801

4. No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.

Authors: Esra Arun Ozer; Nejat Aksu; Erkan Uclar; Hakan Erdogan; Ali Rahmi Bakiler; Masahiko Tsuda; Emiko Kitasawa; Mahmut Coker; Erdener Ozer
Journal: Pediatr Nephrol Date: 2003-03-11 Impact factor: 3.714

5. 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

6. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.

Authors: Inci Nur Saltik-Temizel; Turgay Coşkun; Aysel Yüce; Nurten Koçak
Journal: Turk J Pediatr Date: 2005 Apr-Jun Impact factor: 0.552

7. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

Authors: O Sakamoto; E Ogawa; T Ohura; Y Igarashi; Y Matsubara; K Narisawa; K Iinuma
Journal: Pediatr Res Date: 2000-11 Impact factor: 3.756

8. 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

Review 9. Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.

Authors: R Santer; R Schneppenheim; D Suter; J Schaub; B Steinmann
Journal: Eur J Pediatr Date: 1998-10 Impact factor: 3.183

10. Fanconi-Bickel syndrome.

Authors: F Manz; H Bickel; J Brodehl; D Feist; K Gellissen; B Geschöll-Bauer; G Gilli; E Harms; H Helwig; W Nützenadel
Journal: Pediatr Nephrol Date: 1987-07 Impact factor: 3.714

5 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