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         Galt Deficiency:     more detail

1. GALT Deficiency Definition - Medical Dictionary Definitions Of Popular Medical T
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=18068

2. Webkatalog
features of galactocerebrosidase deficiency. http//www.nlm.nih.gov/cgi/jablonski/sy. ..
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3. GALT Deficiency Causes UDP-hexose Deficit In Human Galactosemic Cells -- Lai Et
Enzyme kinetics and the effect of galt deficiency. GALT is deficient in human We then test the hypothesis that galt deficiency caused decreased
http://glycob.oxfordjournals.org/cgi/content/full/13/4/285
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Glycobiology Advance Access originally published online on January 3, 2003
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Request Permissions PubMed PubMed Citation Articles by Lai, K. Articles by Elsas, L.J. Glycobiology, 2003, Vol. 13, No. 4
Oxford University Press
GALT deficiency causes UDP-hexose deficit in human galactosemic cells
K. Lai S.D. Langley F.W. Khwaja E.W. Schmitt and L.J. Elsas Division of Medical Genetics, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA
Genetics and Molecular Biology Program, Graduate Division of Biological Sciences, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA

4. Gene [09p13/GALT] Galactose-1-phosphate Uridylyltransferase;
Gene 09p13/GALT galactose1-phosphate uridylyltransferase; galactosemia I (galt deficiency);
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5. GALT Deficiency Causes UDP-hexose Deficit In Human Galactosemic Cells -- Lai Et
galt deficiency causes UDPhexose deficit in human galactosemic cells. K.Lai12,3 , SD Langley3 , FW Khwaja4 , EW Schmitt3 and LJ Elsas3,4
http://glycob.oxfordjournals.org/cgi/content/abstract/13/4/285
JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author:
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Year: Vol: Page:
Glycobiology Advance Access originally published online on January 3, 2003
This Article Full Text FREE Full Text (PDF) All Versions of this Article:
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ISI Web of Science (4)
Request Permissions PubMed PubMed Citation Articles by Lai, K. Articles by Elsas, L.J. Glycobiology, 2003, Vol. 13, No. 4
Oxford University Press
GALT deficiency causes UDP-hexose deficit in human galactosemic cells
K. Lai S.D. Langley F.W. Khwaja E.W. Schmitt and L.J. Elsas Division of Medical Genetics, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA
Genetics and Molecular Biology Program, Graduate Division of Biological Sciences, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA

6. GALT Deficiency Causes UDP-hexose Deficit In Human Galactosemic
galt deficiency causes UDPhexose deficit in human galactosemic cells.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) :
Synonyms and related keywords GALT, galactosemia, galt deficiency, Individuals with galt deficiency manifest abnormal galactose tolerance. Frequency
http://www.emedicine.com/ped/topic818.htm
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Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
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 of Pediatrics and Biochemistry, Pediatrics, Thomas Jefferson University 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

8. Galt Deficiency - Talk Medical
Humanfriendly medical definition of galt deficiency
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9. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) :
Individuals with galt deficiency manifest abnormal galactose tolerance. Frequency.In the US Incidence is approximately 1 case in 4000060000 persons.
http://www.emedicine.com/ped/byname/galactose-1-phosphate-uridyltransferase-defi
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Excerpt from Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Synonyms, Key Words, and Related Terms: GALT, galactosemia, GALT deficiency, galactose diabetes
Please click here to view the full topic text: Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Background: Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period. First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common enzyme deficiency that causes galactosemia. Removing lactose largely eliminates the toxicity associated with newborn disease, but long-term complications routinely occur, as reported by Komrower and Lee in 1970 and then delineated in a 1990 retrospective survey by Waggoner and associates. Pathophysiology: Galactosemia is associated with the following 3 enzyme deficiencies:
  • Galactokinase converts galactose to galactose-1-phosphate and is not a common deficiency.
  • Uridine diphosphate (UDP) galactose-4-epimerase epimerizes UDP galactose to UDP glucose and also is uncommon.

10. MedForumsLive.com - GALT Deficiency
galt deficiency Lack of the enzyme called GALT (galactose1-phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia
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11. Genetics In Medicine - UserLogin
The clinical diagnosis of galt deficiency was confirmed by laboratory tests beforethe neonatal An emergency evaluation confirmed galt deficiency.
http://www.geneticsinmedicine.org/pt/re/gim/fulltext.00125817-200503000-00012.ht
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12. Galactosemia Galactose-1-Phosphate Uridyl Transferase Deficiency
Galactosemia Galactose1-Phosphate Uridyl Transferase Deficiency galt deficiency Galactosemia Galactose-1-Pho
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13. Fluorescent Test For Galt Deficiency
fluorescent test for galt deficiency those that were gardens, not so much measureas he mounts phenomena of innervation when newfangled may be in like
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14. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency
Synonyms and related keywords GALT, galactosemia, galt deficiency, galactose diabetes AUTHOR INFORMATION Section 1 of 10
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15. Entrez PubMed
Previously we reported that stable transfection of human UDPglucosepyrophosphorylase (hUGP2) rescu
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

16. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency
Synonyms, Key Words, and Related Terms GALT, galactosemia, galt deficiency, galactose diabetes
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Entrez PubMed
galt deficiency, not previously described in muscle, may be of pathogenic relevancein determining the myopathic features present in galt deficiency
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

18. Galactosemia
Synonyms. Galactose1-Phosphate Uridyl Transferase Deficiency. galt deficiency
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19. Galactosemia
galt deficiency accounts for about 95% of galactosemias. galt deficiency mostoften presents as a life threatening illness within the first two weeks
http://www.pediatrix.com/body_screening_menu.cfm?id=1584

20. Galactosemia - Quest Diagnostics Patient Health Library
Synonyms. Galactose1-Phosphate Uridyl Transferase Deficiency. galt deficiency
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