Sindrom Fanconi-Bickel: Perbedaan antara revisi

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}}</ref> yang ditandai dengan pengendapan [[glikogen]] hepatorenal, disfungsi tubular proksimal pada [[ginjal]], dan degradasi [[metabolisme karbohidrat]]<ref name="uch fbs">{{en}} {{cite web
| url = http://www.springerlink.com/content/r92f2fjre171v7mb
| title = Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
| accessdate = 2010-05-02
| work = University Children's Hospital, et al; R. Santer, et al.
}}{{Pranala mati|date=Maret 2021 |bot=InternetArchiveBot |fix-attempted=yes }}</ref> termasuk utilisasi [[glukosa]] dan [[galaktosa]],<ref>{{en}} {{cite web
| url = http://www.uniprot.org/uniprot/P11168
| title = Reviewed, UniProtKB/Swiss-Prot P11168 (GTR2_HUMAN)
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}}</ref> atau [[heterozigos]] komposit<ref>{{en}} {{cite web
| url = http://www.benthamdirect.org/pages/content.php?CMM/2002/00000002/00000002/0010M.SGM
| title = Current Molecular Medicine; Fanconi-Bickel Syndrome - A Congenital Defect of Facilitative Glucose Transport
| accessdate = 2010-05-02
| work = Bentham Science; R. Santer, B. Steinmann, J. Schaub
| archive-date = 2011-07-25
| archive-url = https://web.archive.org/web/20110725065443/http://www.benthamdirect.org/pages/content.php?CMM%2F2002%2F00000002%2F00000002%2F0010M.SGM
| dead-url = yes
}}</ref> pada [[gen]] pada [[transporter glukosa|GLUT2]].<ref name="uch fbs" />
 
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[[Kategori:Sindrom|Fanconi-Bickel]]