Literature DB >> 15243984

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

A Peduto1, M Spada, A Alluto, M La Dolcetta, A Ponzone, R Santer.   

Abstract

A patient affected by Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia is reported. Molecular studies of the GLUT2 gene led to the identification of a novel mutation of the glucose transporter.

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Year:  2004        PMID： 15243984     DOI： 10.1023/b:boli.0000028841.00833.f4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

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

Authors:  Zohreh Karamizadeh; Forough Saki; Mohammad Hadi Imanieh; Mojgan Zahmatkeshan; Majid Fardaee
Journal:  J Genet       Date:  2012       Impact factor: 1.166

2.  Newborn screening for galactosemia: a 30-year single center experience.

Authors:  Francesco Porta; Severo Pagliardini; Veronica Pagliardini; Alberto Ponzone; Marco Spada
Journal:  World J Pediatr       Date:  2015-03-09       Impact factor: 2.764

3.  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

4.  Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.

Authors:  Priyanka Khandelwal; Aditi Sinha; Vandana Jain; Jayne Houghton; Pankaj Hari; Arvind Bagga
Journal:  CEN Case Rep       Date:  2017-11-08

5.  Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Marzia Pasquali; Chunli Yu; Bradford Coffee
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

6.  Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.

Authors:  Imad Mohammad Dweikat; Issa Shaher Alawneh; Sami Fares Bahar; Mutaz Idrees Sultan
Journal:  BMC Res Notes       Date:  2016-08-04

Review 7.  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
  7 in total

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