Sindrom Fanconi-Bickel: Perbedaan antara revisi
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'''Sindrom Fanconi-Bickel''' ({{lang-en|Fanconi-Bickel syndrome, Glycogen storage disease type XI, Hepatorenal Glycogenosis with renal Fanconi Syndrome, Hepatic Glucogenosis with Fanconi Nephropathy, Hepatic Glycogenosis with amino aciduria and glucosuria, Fanconi syndrome with intestinal malabsorption and galactose intolerance, Pseudo-phlorizin diabetes, Fanconi type glycogenosis, FBS}}) adalah sebuah sindroma yang dikenali [[Horst Bickel]] dan [[Guido Fanconi]] pada tahun 1949 yang merupakan komplikasi dari [[nefropati tubular]] dan [[glikogenosis]],<ref>{{en}} {{cite web
| url = http://www.whonamedit.com/synd.cfm/65.html
| title = Fanconi-Bickel syndrome
| accessdate = 2010-05-02
| work = Whonameit.com
}}</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)
| accessdate = 2010-05-02
| work = UniProt
}}</ref> walaupun tidak disertai oleh disfungsi [[fosfoglukomutase]], sejenis [[enzim]] yang mengurai kedua zat gula tersebut.<ref>{{en}} {{cite web
| url = http://www.ncbi.nlm.nih.gov/omim/227810
| title = FANCONI-BICKEL SYNDROME; FBS
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}}</ref>
FBS disebabkan oleh mutasi [[homozigos]]<ref>{{en}} {{cite web
| url = http://www.ncbi.nlm.nih.gov/pubmed/11949937
| title = Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport
| accessdate = 2010-05-02
| work = Department of Pediatrics, University Children's Hospital; Santer R, Steinmann B, Schaub J.
}}</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]]
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