Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: July 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: GALT, galactosemia, GALT deficiency, galactose diabetes AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: George A Anadiotis, DO , Consulting Staff, Department of Pediatric Rehabilitation and Development, Division of Clinical and Biochemical Genetics, Emmanuel Children's Hospital Coauthor(s): Gerard T Berry, MD , Professor, Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia and University of Pennsylvania George A Anadiotis, DO, is a member of the following medical societies: American Medical Association , and American Society of Human Genetics Editor(s): Robert D Steiner, MD
Galactosemia to glucose. Galactose1-phosphate uridyl transferase (galt) deficiencyis the defect in the severe form of the disease. Diagnosis. http://gucfm.georgetown.edu/welchjj/netscut/genetics/Galactosemia.html
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Extractions: References Asano M, et al.: Growth retardation and early death ofÀ -1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells. EMBO J. 16,1850-1857, 1997 Lu Q, Hasty P, Shur BD,: Targeted mutation in À -1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality. Dev. Biol. 181, 257-267, 1997 Lu Q, Shur, BD,: Sperm from À1,4-galactosyltransferase-null mice are refractory to ZP3-induced acrosome reactions and penetrate the zona pellucida poorly. Development 124, 4121-4131, 1997 Kido M, et al.: Presence of polysialic acid and HNK-1 carbohydrate on brain glycoproteins fromÀ-1,4-galactosyltransferase-knockout mice. Biochem. Biophys. Res. Commun. 245, 860-864, 1998 Kotani N, et al.: ImpairedÀ-1,4-galactosylation of core 2 0-glycans in erythrocytes ofÀ-1,4-galactosyltranferase knockout mice. Biochem. Biophys. Res.Commun. 260, 94-98, 1999 Kotani N, et al.: Knockout of mouseÀ1,4-galactosyltransferase-1 gene results in a dramatic shift of outer chain moieties of N-glycans from type 2 to type 1 chains in hepatic membrane and plasma glycoproteins. Biochem. J. 357, 827-834, 2001 Hansske B, et al.: Deficiency of UDP-galactose:N-acetylglucosamineÀ -1,4-galactosyltransferase-I causes the congenital disorder of glycosylation type IId. J. Clin. Invest. 109, 725-733, 2002
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New Page 1 Directory Results for G assoicated to Health from Linkspider.org. KeywordSearch G assoicated to Health. Search and Browse Information http://www.linkspider.org/index.cgi/Health/ConditionsandDiseases/G/
Extractions: Keyword Search: G assoicated to Health Search For: Match » -All words -Any word -Exact text Content » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Per-Page » default All Results Timeout » default 1 second 2 seconds 3 seconds 4 seconds 5 seconds 6 seconds 7 seconds 8 seconds 9 seconds 10 seconds 12 seconds 15 seconds 20 seconds Search Bar Download Suggest a Site Personalize GALT Deficiency Galactosemia Gallstones Gastric Cancer ... MayoClinic.com G.I. Digest - AstraZeneca
