41. Digestive System - Genetics Home Reference Galactose1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia galactosemia; galt deficiency see galactosemia; genetic emphysema see http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/digestivesystem

Home What's New Browse Handbook ... Search Browse Browse Conditions By Name By Category Browse Genes By Symbol By Full Name By Category Browse Chromosomes Digestive system Digestion is the process of breaking down food and using nutrients for energy and maintenance of the body. Some digestive diseases are thought to be hereditary. AAT see alpha-1 antitrypsin deficiency acute intermittent porphyria Adenomatous Polyposis Coli see familial adenomatous polyposis Adenomatous Polyposis of the Colon see familial adenomatous polyposis ADP see ALAD deficiency porphyria AIP see acute intermittent porphyria 5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria ALA-D porphyria see ALAD deficiency porphyria ALA dehydratase porphyria see ALAD deficiency porphyria ALAD deficiency porphyria Alagille syndrome alpha-1 antitrypsin deficiency Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria 5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria Arteriohepatic Dysplasia see Alagille syndrome Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type

42. NORD - National Organization For Rare Disorders, Inc. Classic Galactosemia; galt deficiency; Galactose1-Phosphate Uridyl TransferaseDeficiency. Disorder Subdivisions. General Discussion http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Galactosemia

43. GeneTests: Search Results Galactosemia Classic Galactosemia galt deficiency Galactose1-PhosphateUridyltransferase Deficiency Includes Duarte Variant Galactosemia http://www.genetests.org/query?testid=2229

44. Portal Toolkit Invalid Site URL British Paediatric Surveillance Unit (BPSU) set out to ascertain and collectdata on all cases of galt deficiency within the United Kingdom and Republic http://ppv.ovid.com/pt/re/adch/fulltext.00000740-200009010-00021.htm

Sorry, the URL specified, http://ppv.ovid.com:80/pt/re/adch/fulltext.00000740-200009010-00021.htm , is invalid. To go to site for "OvidPPV" please click here http://ppv.ovid.com To go to site for "Archives of Disease in Childhood" please click here http://www.lwwonline.com To go to the LWW Online site, please click here http://www.lwwonline.com Thank you

45. The World Diseases A 2 Z Names By Countrylinks And Dr Impex galt deficiency. Gastric Cancer. Gastrointestinal Disorders. Gastrointestinal RefluxDisorder. Gaucher s Disease. Genital Warts. Gerstmann Syndrome http://hem.passagen.se/dr1/

Country Links Note: search with CTRL + F A Aarskog Syndrome Aase Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome Achilles Tendonitis Achondroplasia Acoustic Neuroma Acromegaly Activated Protein C Resistance Acute Idiopathic Polyneuritis ADD and ADHD Addiction and Recovery Addison's Disease Adiposis Dolorosa Adjustment Disorders Adrenoleukodystrophy Agnosia Agoraphobia Aicardi Syndrome AIDS Alagille Syndrome Albinism Alcoholism Alexander Disease Alkaptonuria Allergies Alopecia Alpers' Disease Alpha1 Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia Altophobia Alzheimer's Amblyopia Amputee Amyloidosis Amyoplasia Congenita Amyotrophic Lateral Sclerosis Anal Fissures Anemia Anencephaly Aneurysm Angina Pectoris Anophthalmos Anorexia Anosmia Anterior Knee Pain Syndrome Antiphospholipid Syndrome Anxiety Aortic Valve Disease Apert Syndrome Aphasia Aplastic Anemia Apnea, Sleep Appendicitis Arrhythmia Arteriohepatic Dysplasia Arthritis Arthrogryposis Asbestosis Asperger's Syndrome Aspergillosis Asthma Atherosclerosis Athlete's Foot Atrial Fibrillation Attachment Disorder Attention Deficit Disorder Autism Auto Immune Disorders Aviophobia Aviatophobia B Bacillary Angiomatosis Back Disorders Bad Breath Balanitis Baldness Barth Syndrome Bassen Kornzweig Syndrome Batten Disease Beckwith-Wiedemann Syndrome Behcet's Syndrome Bell's Palsy Benign Breast Lumps Benign Prostatic Hyperplasia Berger's Disease Beriberi Beryllium Disease Besnier Boeck Disease Betalipoprotein Deficiency Disease

46. EMORY Genetics And Molecular Biology galt deficiency causes UDPhexose deficit in human galactosemic cells. Glycobiology.2003 Apr;13(4)285-94. Epub 2003 Jan 03. Nagarajan UM, Lochamy J, http://www.biomed.emory.edu/PROGRAM_SITES/GMB/publications.html

Recent Publications of GMB Students Shaw RJ, Bonawitz ND, Reines D. Use of an in vivo reporter assay to test for transcriptional and translational fidelity in yeast. J Biol Chem. 2002 Jul 5;277(27):24420-6. O'Rourke TW, Doudican NA, Mackereth MD, Doetsch PW, Shadel GS. Mitochondrial dysfunction due to oxidative mitochondrial DNA damage is reduced through cooperative actions of diverse proteins. Mol Cell Biol. 2002 Jun;22(12):4086-93. Salmon TB, Evert BA, Song B, Doetsch PW. Biological consequences of oxidative stress-induced DNA damage in Saccharomyces cerevisiae. Nucleic Acids Res. 2004 Jul 14;32(12):3712-23. Evert BA, Salmon TB, Song B, Jingjing L, Siede W, Doetsch PW. Spontaneous DNA damage in Saccharomyces cerevisiae elicits phenotypic properties similar to cancer cells. J Biol Chem. 2004 May 21;279(21):22585-94. Campbell PK, Waymire KG, Heier RL, Sharer C, Day DE, Reimann H, Jaje JM, Friedrich GA, Burmeister M, Bartness TJ, Russell LD, Young LJ, Zimmer M, Jenne DE, MacGregor GR. Mutation of a novel gene results in abnormal development of spermatid flagella, loss of intermale aggression and reduced body fat in mice. Genetics. 2002 Sep;162(1):307-20.

47. Medical Dictionary: G - Talk Medical galt deficiency Galton, Sir Francis Gamete Gamete Intrafallopian Transfer (gift) Gametic Gametic Selection Gametogenesis Gametophobia http://www.talkmedical.com/medical-dictionary/alpha-g

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Medical Dictionary A-Z A B C D ... Z Search Medical Dictionary G G G (drug Caution Code) g (gram) G Protein ... Terms and Conditions

48. Or-Live Content: PEDIATRIC PUZZLER Galactokinase deficiency, much less common than galt deficiency, is characterizedby galactosemia, galactosuria, cataracts, and aminoaciduria, http://or-live.mediwire.com/main/Content.aspx?ArticleID=144427

49. Galactose Metabolism By The Mouse With Galactose-1-Phosphate Uridyltransferase D galt deficiency causes UDPhexose deficit in human galactosemic cells Glycobiology,April 1, 2003; 13(4) 285 - 294. Abstract Full Text PDF http://www.pedresearch.org/cgi/content/abstract/48/2/211

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) correspondence: Submit a response ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by NING, C. Articles by SEGAL, S. Pediatric Research International Pediatric Research Foundation, Inc. Galactose Metabolism by the Mouse with Galactose-1-Phosphate Uridyltransferase Deficiency CONG NING ROBERT REYNOLDS JIE CHEN CLAIRE YAGER GERARD T. BERRY PAMELA D. McNAMARA NANCY LESLIE and STANTON SEGAL The ability of mice deficient in galactose-1-phosphate uridyltransferase (GALT) to metabolize galactose was determined in animals weaned to a mouse chow diet for a 4-wk period. When given [ C]galactose intraperitoneally, these animals slowly oxidized the sugar, excreting only 5.5% of the dose as

50. Galactose Metabolism By The Mouse With Galactose-1-Phosphate Uridyltransferase D To enhance the study of the pathogenesis of galt deficiency and further our galt deficiency causes UDPhexose deficit in human galactosemic cells http://www.pedresearch.org/cgi/content/full/48/2/211

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) correspondence: Submit a response ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by NING, C. Articles by SEGAL, S. Pediatric Research International Pediatric Research Foundation, Inc. Galactose Metabolism by the Mouse with Galactose-1-Phosphate Uridyltransferase Deficiency CONG NING ROBERT REYNOLDS JIE CHEN CLAIRE YAGER GERARD T. BERRY PAMELA D. McNAMARA NANCY LESLIE and STANTON SEGAL ABSTRACT TOP ABSTRACT INTRODUCTION METHODS RESULTS DISCUSSION REFERENCES The ability of mice deficient in galactose-1-phosphate uridyltransferase (GALT) to metabolize galactose was determined in animals weaned to a mouse chow diet for a 4-wk period. When given [ C]galactose intraperitoneally, these animals slowly oxidized the sugar

51. Medical Analysis Topics From Answers.com galt deficiency GammaOH Ganglion Gardner Syndrome Gastric Emptying Study Gastroesophageal Reflux Disease (GERD) Gastroparesis Gaucher Disease http://www.answers.com/library/Medical Analysis-letter-1G

showHide_TellMeAbout('false'); Business Entertainment Food Games ... More... Medical Analysis Directory Health Descriptions of symptoms, and what they may mean, plus medications, treatments Search in "Medical Analysis" for topic titles containing: A B C D ... F G H I J K ... Z G: G6PD Deficiency gabapentin Galactosemia galantamine ... Guillain-Barre Syndrome Tell me about: Home About Tell a Friend Buzz ... Site Map

52. University Of Miami School Of Medicine galt deficiency Galton, Sir Francis Gamete Gamete intrafallopian transfer (GIFT) Gametic Gametic selection Gametogenesis Gametophobia http://www.med.miami.edu/glossary/list.asp?L=G&T=DICT

53. Hill Health Topics A-Z List: G : Health Topics galt deficiency Gamete and zygote intrafallopian transfer (GIFT and ZIFT) forinfertility, Top. Gammaglobulin Deficiency http://www.healthwise.net/hillhealth/Find/list.aspx?LETTER=G&FILTER=Health Topic

54. Search By Disease GALC deficiency. 17, galt deficiency. 18, Gamma3-linked gene (GNG3LG). 19,Gamma-aminobutyrate transaminase (GABAT). 20, Gamma-hydroxybutyricadiduria http://www.eddnal.com/directory/disease.php?letter=G&page=2

55. MyGP Irish Health Information Website Gait Gallstones Galactorrhea Gallstones and ERCP Galactose Gallstones,microscopic Galactosemia GALT Galeophobia galt deficiency http://www.mygp.ie/DesktopModules/Library/LibraryResult.aspx?wl=G

56. Health Topics - Quest Diagnostics Patient Health Library Galloway Syndrome Gallstones galt deficiency Gamete and zygote intrafallopiantransfer (GIFT and ZIFT) for infertility Gammaglobulin Deficiency, Top http://www.questdiagnostics.com/kbase/list/ht/g.htm

Health Topics Click a letter to see a list of topics beginning with that letter. A B C D ... G6PD Deficiency GA GA I GA II Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase Deficiency ... Gammaglobulin Deficiency Top GAN Ganglions Ganglioside Neuraminidase Deficiency Ganglioside Sialidase Deficiency ... Gastroenteritis, Eosinophilic Top Gastroenteropathy, Protein Losing Gastroesophageal Laceration-Hemorrhage Gastroesophageal Reflux Disease (GERD) Gastrointestinal Polyposis and Ectodermal Changes ... Gaucher-Schlagenhaufer GB GBS GC GCM Syndrome GCPS GCS GE Gelineau's Syndrome Genee-Wiedemann Syndrome General fibrosis syndrome Generalized Flexion Epilepsy ... Geographic Choroidopathy Top Geographic Helicoid Peripapillary Choroidopathy (GHPC) Geographic Serpiginous Choroiditis GERD (Gastroesophageal Reflux Disease) Gerhardt Disease ... Gestational trophoblastic tumors: Treatment - Patient Information [Cancer.gov] GH GHBP GHD GHR GI Gianotti Crosti Syndrome Giant Axonal Disease Giant Axonal Neuropathy Giant Benign Lymphoma ... Giant Cell Disease of the Liver Top Giant Cell Glioblastoma, Astrocytoma

57. Absence Of A Relationship Between Endometriosis And The N314D Polymorphism Of Ga Another possibility is that maternal galt deficiency could increase the risk ofendometriosis in female offspring. This is supported by the fact that the http://molehr.oxfordjournals.org/cgi/content/full/5/10/990

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (20) Request Permissions PubMed PubMed Citation Articles by Hadfield, R.M. Articles by Kennedy, S.H. Molecular Human Reproduction, Vol. 5, No. 10, 990-993, October 1999 European Society of Human Reproduction and Embryology Diagnosing genetic disease Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population R.M. Hadfield S. Manek S. Nakago S. Mukherjee D.E. Weeks H.J. Mardon D.H. Barlow and S.H. Kennedy Department of Cellular Pathology, John Radcliffe Hospital, Oxford OX3 9DU, UK, Department of Human Genetics, University of Pittsburgh, USA

58. Science -- Sign In galt deficiency causes UDPhexose deficit in human galactosemic cells. Glycobiology13 285-294 Abstract Full Text; Washburn, MP, Koller, A., Oshiro, http://www.sciencemag.org/cgi/content/abstract/292/5518/929

You do not have access to this item: Abstract : Ideker et al., Integrated Genomic and Proteomic Analyses of a Systematically Perturbed Meta..., Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

59. Untitled Document For those with galt deficiency, the most common form of galactosemia, the bloodis tested regularly for Gal1-P. The level of Gal-1-P will be high if the http://www.dor.kaiser.org/genetics/OurServices/MetabolicMain.html

Metabolic Clinic Frequently Asked Questions (FAQ) WHAT IS METABOLISM? WHAT DOES IT MEAN TO HAVE A METABOLIC DISORDER? HOW ARE METABOLIC DISORDERS INHERITED? WHAT DOES KAISER OFFER INDIVIDUALS WITH METABOLIC DISORDERS? ... INFORMATION ABOUT SPECIFIC METABOLIC DISORDERS PHENYLKETONURIA (PKU) WHAT IS PKU? HOW IS PKU TREATED? HOW TO COLLECT A BLOOD SPOT HOW TO INTERPRET PKU TEST RESULTS GALACTOSEMIA WHAT IS GALACTOSEMIA? HOW IS GALACTOSEMIA TREATED? HOMOCYSTINURIA WHAT IS HOMOCYSTINURIA? HOW IS HOMOCYSTINURIA TREATED? MAPLE SYRUP URINE DISEASE (MSUD) WHAT IS MSUD? HOW IS MSUD TREATED? METHYLMALONIC ACIDEMIA (MMA) AND PROPIONIC ACIDEMIA (PA) WHAT ARE MMA AND PPA? HOW ARE MMA AND PPA TREATED? WHAT RESOURCES ARE AVAILABLE FOR PEOPLE WITH A METABOLIC DISORDER? What is metabolism? Metabolism is the process by which the body breaks down food, uses it for energy, and stores it. What does it mean to have a metabolic disorder?

60. Stoornissen In De Koolhydraatstofwisseling Synoniemen galt deficiency; Classic Galactosemia OMIM 230400 OMIM ClinicalSynopsis eMedicine Galactose-1-phosphate Uridyltransferase Deficiency http://www.homepages.hetnet.nl/~b1beukema/ziekkool.html

Stoornissen in de koolhydraatstofwisseling Stoornissen in de fructose stofwisseling: F ructosurie ( Essential Fructosuria - hepatic fructokinase deficiency ) Synoniemen: Hepatische fructokinase deficiëntie ; Ketohexokinase deficiëntie. OMIM: OMIM: Clinical Synopsis ExPASy: Ketohexokinase; EC 2.7.1.3 Enzym synoniemen: Ketohexokinase -phosphate Hereditaire fructose intolerantie ( Fructosemie ) Synoniemen: Fructosemia; fructose-1-phosphate aldolase deficiency; Fructose-1,6-biphosphate aldolase deficiency; Aldolase B deficiency OMIM: OMIM: Clinical Synopsis e-Medicine: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance) ExPASy: Fructose-bisphosphate aldolase; EC 4 Enzym synoniemen: Aldolase; Fructose-1,6-bisphosphate triosephosphate-lyase Zie ook de gluconeogenese en de glycolyse Hereditaire fructose 1,6-bisphosphatase Deficiëntie Synoniemen: Fructose 1,6-diphosphatase deficiency; FBP-ase deficiency; FDP-ase deficiency OMIM: OMIM: Clinical Synopsis e-Medicine: Fructose 1,6-Diphosphatase Deficiency

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