Congenital hepatic fibrosis?Is it really a matter of ?a spoonful of sugar??
1999; Lippincott Williams & Wilkins; Volume: 30; Issue: 2 Linguagem: Inglês
10.1002/hep.510300239
ISSN1527-3350
Autores Tópico(s)Pediatric Hepatobiliary Diseases and Treatments
ResumoHepatologyVolume 30, Issue 2 p. 582-583 ElsewhereFree Access Congenital hepatic fibrosis—Is it really a matter of “a spoonful of sugar?” Sarah Jane Schwarzenberg, Sarah Jane Schwarzenberg M.D. University of Minnesota, Minneapolis, MNSearch for more papers by this author Sarah Jane Schwarzenberg, Sarah Jane Schwarzenberg M.D. University of Minnesota, Minneapolis, MNSearch for more papers by this author First published: 30 December 2003 https://doi.org/10.1002/hep.510300239Citations: 4AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1 Kottgen E, Buchsel R, Bauer C. Glycoproteins in liver disease. In: L Bianchi, W Gerok, L Landmann, K Sickinger, GA Stalder, eds. Liver in Metabolic Disease (a Falk symposium). MTP Press Limited 1983; 145– 153. 2 Lippincott-Schwartz J. The endoplasmic reticulum-Golgi membrane system. In: IM Arias, JL Boyer, N Fausto, WB Jakoby, D Schachter, DA Shafritz, eds. The Liver: Biology and Pathobiology. New York: Raven Press, 1994; 215– 228. 3 Jaeken J, Stibler H, Hagberg B. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand Suppl 1991; 375: 1– 71. MEDLINE 4 Freeze HH. Disorders in protein glycosylation and potential therapy: tip of an iceberg? J Pediatr 1998; 133: 593– 600. MEDLINE 5 Niehues R, Hasilik M, Alton G, Korner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy [see comments]. J Clin Invest 1998; 101: 1414– 1420. MEDLINE 6 Marquardt T, Hasilik M, Niehues R, Korner C, Freeze H, Harms K, Harms E. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency. Eur J Pediatr 1998; 157: 174A. 7 de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, et al. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun 1998; 245: 38– 42. MEDLINE 8 Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, et al. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation [letter]. Am J Hum Genet 1998; 62: 1535– 1539. MEDLINE 9 Pelletier VA, Galeano N, Brochu P, Morin CL, Weber AM, Roy CC. Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome. J Pediatr 1985; 107: 61– 65. Citing Literature Volume30, Issue2August 1999Pages 582-583 ReferencesRelatedInformation
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