Literature DB >> 9266402

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

D Müller1, R Santer, M Krawinkel, B Christiansen, J Schaub.   

Abstract

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Year:  1997        PMID： 9266402     DOI： 10.1023/a:1005375629820

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


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  5 in total

1.  Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.

Authors:  Mohammad Al-Haggar
Journal:  World J Nephrol       Date:  2012-06-06

2.  Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.

Authors:  Han-Wook Yoo; Young-Lim Shin; Eul-Ju Seo; Gu-Hwan Kim
Journal:  Eur J Pediatr       Date:  2002-04-16       Impact factor: 3.183

Review 3.  Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.

Authors:  Siri Atma W Greeley; Rochelle N Naylor; Louis H Philipson; Graeme I Bell
Journal:  Curr Diab Rep       Date:  2011-12       Impact factor: 4.810

Review 4.  Glycogen storage diseases: new perspectives.

Authors:  Hasan Ozen
Journal:  World J Gastroenterol       Date:  2007-05-14       Impact factor: 5.742

Review 5.  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
  5 in total

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