Literature DB >> 9686354

Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism.

R Santer1, R Schneppenheim, A Dombrowski, H Götze, B Steinmann, J Schaub.   

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Year:  1998        PMID： 9686354     DOI： 10.1023/a:1005379013406

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


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  5 in total

1.  [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

2.  The GLUT5 hexose transporter is also localized to the basolateral membrane of the human jejunum.

Authors:  S J Blakemore; J C Aledo; J James; F C Campbell; J M Lucocq; H S Hundal
Journal:  Biochem J       Date:  1995-07-01       Impact factor: 3.857

3.  Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

Authors:  R Santer; R Schneppenheim; A Dombrowski; H Götze; B Steinmann; J Schaub
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330

4.  Rapid reversible substrate regulation of fructose transporter expression in rat small intestine and kidney.

Authors:  C F Burant; M Saxena
Journal:  Am J Physiol       Date:  1994-07

5.  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
  7 in total

1.  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

2.  Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia.

Authors:  Hongbo Chen; Juan-Juan Lyu; Zhuo Huang; Xiao-Mei Sun; Ying Liu; Chuan-Jie Yuan; Li Ye; Dan Yu; Jin Wu
Journal:  Front Pediatr       Date:  2022-06-09       Impact factor: 3.569

3.  Model of the exofacial substrate-binding site and helical folding of the human Glut1 glucose transporter based on scanning mutagenesis.

Authors:  Mike Mueckler; Carol Makepeace
Journal:  Biochemistry       Date:  2009-06-30       Impact factor: 3.162

4.  Purification and characterization of mammalian glucose transporters expressed in Pichia pastoris.

Authors:  Arturo Alisio; Mike Mueckler
Journal:  Protein Expr Purif       Date:  2009-10-31       Impact factor: 1.650

5.  Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle.

Authors:  Hubert Pausch; Hermann Schwarzenbacher; Johann Burgstaller; Krzysztof Flisikowski; Christine Wurmser; Sandra Jansen; Simone Jung; Angelika Schnieke; Thomas Wittek; Ruedi Fries
Journal:  BMC Genomics       Date:  2015-04-18       Impact factor: 3.969

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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