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Volumn 79, Issue 1, 2012, Pages 112-114

Fanconi-bickel syndrome

Author keywords

Fanconi syndrome; Fanconi Bickel syndrome; Glycogen storage disease type XI; Rickets

Indexed keywords

ALKALINE PHOSPHATASE; BICARBONATE; CALCIUM; PHOSPHATE; PHOSPHORUS; TYROSINE;

EID: 84857036530     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-011-0373-5     Document Type: Conference Paper
Times cited : (17)

References (8)
  • 1
    • 0036088069 scopus 로고    scopus 로고
    • Fanconi-Bickel syndrome - A congenital defect of facilitative glucose transport
    • Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome-a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2:213-27. (Pubitemid 34649842)
    • (2002) Current Molecular Medicine , vol.2 , Issue.2 , pp. 213-227
    • Santer, R.1    Steinmann, B.2    Schaub, J.3
  • 2
    • 77049297365 scopus 로고
    • Die chronische Aminoacidurie (Aminosäurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit
    • Fanconi G, Bickel H. Die chronische Aminoacidurie (Aminosä urediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediatr acta. 1949;4:359-96.
    • (1949) Helv Paediatr Acta. , vol.4 , pp. 359-396
    • Fanconi, G.1    Bickel, H.2
  • 3
    • 39049176219 scopus 로고    scopus 로고
    • Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome
    • Furlan F, Santer R, Vismara E, et al. Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. J Inherit Metab Dis. 2006;29:685.
    • (2006) J Inherit Metab Dis. , vol.29 , pp. 685
    • Furlan, F.1    Santer, R.2    Vismara, E.3
  • 5
    • 48449098181 scopus 로고    scopus 로고
    • Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome
    • Taha D, Al-Harbi N, Al-Sabban E. Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. J Pediatr Endocrinol Metab. 2008;6:581-6.
    • (2008) J Pediatr Endocrinol Metab. , vol.6 , pp. 581-586
    • Taha, D.1    Al-Harbi, N.2    Al-Sabban, E.3
  • 6
    • 0033762207 scopus 로고    scopus 로고
    • Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome
    • Sakamato O, Ogawa E, Ohura T, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediatr Res. 2000;48:586-9.
    • (2000) Pediatr Res. , vol.48 , pp. 586-589
    • Sakamato, O.1    Ogawa, E.2    Ohura, T.3
  • 7
    • 4344559467 scopus 로고    scopus 로고
    • The glucose transporter families SGLT and GLUT: Molecular basis of normal and aberrant function
    • Scheepers A, Joost HG, Schürmann A. The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. J Parenter Enteral Nutr. 2004;28:364-7.
    • (2004) J Parenter Enteral Nutr. , vol.28 , pp. 364-367
    • Scheepers, A.1    Joost, H.G.2    Schürmann, A.3
  • 8
    • 0029073815 scopus 로고
    • Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch
    • Lee PJ, Van't Hoff WG, Leonard JV. Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. J Inherit Metab Dis. 1995;18:153-6.
    • (1995) J Inherit Metab Dis. , vol.18 , pp. 153-156
    • Lee, P.J.1    Van'T Hoff, W.G.2    Leonard, J.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.