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52:, a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.
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Santer R, Groth S, Kinner M, et al. (January 2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with
Fanconi–Bickel syndrome".
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200:"Fanconi–Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature"
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115:"Fanconi–Bickel syndrome--a congenital defect of facilitative glucose transport"
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Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (October 1998).
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This article about an endocrine, nutritional, or metabolic disease is a
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FANCONI G, BICKEL H (November 1949). "Not
Available".
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952:Endocrine, nutritional and metabolic disease stubs
113:Santer R, Steinmann B, Schaub J (March 2002).
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847:Mitochondrial pyruvate carrier deficiency
937:Inborn errors of carbohydrate metabolism
742:Recessive multiple epiphyseal dysplasia
505:Congenital endothelial dystrophy type 2
61:
7:
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890:. You can help Knowledge (XXG) by
45:, who first described it in 1949.
25:
878:
552:Thyroid dyshormonogenesis type 1
729:Multiple epiphyseal dysplasia 4
524:Glucose-galactose malabsorption
1:
661:Allan–Herndon–Dudley syndrome
580:Lysinuric protein intolerance
809:Acrodermatitis enteropathica
459:Arterial tortuosity syndrome
491:Hereditary elliptocytosis 4
968:
873:
487:Hereditary spherocytosis 4
856:
747:Atelosteogenesis, type II
177:10.1007/s00439-001-0638-6
131:10.2174/1566524024605743
35:glycogen storage disease
27:Glycogen storage disease
431:Fanconi-Bickel syndrome
31:Fanconi–Bickel syndrome
18:Fanconi-Bickel syndrome
445:Fructose malabsorption
48:It is associated with
861:solute carrier family
823:African iron overload
752:Diastrophic dysplasia
216:10.1007/s004310050937
794:Von Gierke's disease
675:Von Gierke's disease
947:Muscular disorders
510:Fuchs' dystrophy 4
306:External resources
88:Helv Paediatr Acta
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633:Gitelman syndrome
389:Episodic ataxia 6
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16:(Redirected from
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766:Pendred syndrome
538:Renal glycosuria
363:Genetic disorder
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417:De Vivo disease
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145:on 2009-08-23
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75:Who Named It?
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39:Guido Fanconi
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33:is a form of
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232:. Retrieved
228:the original
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147:. Retrieved
143:the original
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68:
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43:Horst Bickel
30:
29:
171:(1): 21–9.
942:Hepatology
931:Categories
594:Cystinuria
473:Cystinuria
291:DiseasesDB
234:2008-08-20
165:Hum. Genet
149:2019-12-30
56:References
37:named for
859:see also
369:disorders
796:, GSD-Ib
677:, GSD-Ic
315:Orphanet
185:11810292
139:11949937
100:15397919
842:SLC54A1
817:SLC40A1
803:SLC39A4
788:SLC37A4
780:CDOG 2C
774:SLC35C1
760:SLC26A4
737:type 1B
723:SLC26A2
698:SLC17A8
684:SLC17A5
669:SLC17A3
655:SLC16A2
641:SLC16A1
627:SLC12A3
613:SLC11A1
560:SLC6A19
499:SLC4A11
453:SLC2A10
403:SPATCCM
275:: E74.0
224:9809815
70:synd/65
704:DFNA25
588:SLC7A9
574:SLC7A7
546:SLC5A5
532:SLC5A2
518:SLC5A1
481:SLC4A1
467:SLC3A1
439:SLC2A5
425:SLC2A2
411:SLC2A1
397:SLC1A4
383:SLC1A3
285:227810
222:
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98:
834:51-60
715:21-40
605:11-20
296:31709
50:GLUT2
888:stub
647:HHF7
375:1-10
320:2088
280:OMIM
220:PMID
181:PMID
135:PMID
96:PMID
41:and
268:ICD
212:doi
208:157
173:doi
169:110
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