61. Galactosemia Classic galactosemia is an inherited disease. Due to a defective gene, A less severe form of this disease is Duarte galactosemia (also called http://healthgate.partners.org/browsing/browseContent.asp?fileName=22824.xml&tit

62. GeneReviews: Galactosemia Your browser does not support HTML frames so you must view galactosemia in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/query?dz=galactosemia

63. Galactosemics.org This area is for general discussions related to galactosemia. This section is for discussions about galactosemia conferences, and for posting notes from http://www.galactosemics.org/forums/

Galactosemics.org Home Profile Register Active Topics ... FAQ Username: Password: Save Password Forgot your Password? Change Category Group Select Other Categories Here! All Categories you have access to Main Categories Group Category Menu Main Categories Topics Posts Last Post Moderator(s) General galactosemia discussions General discussions This area is for general discussions related to Galactosemia. 08:55:46 AM by: Stacey Taylor kmalyn malynj Newly diagnosed children This section is for parents to talk about their newly diagnosed children, and to get answers to their questions. 10:20:55 PM by: AppalachiaGrrl kmalyn malynj Adults with galactosemia Discussions related to adults with galactosemia. 9:22:34 PM by: millie kmalyn malynj Discussions about Duarte Galactosemia This forum is for general discussions on Duarte Galactosemia 6:15:30 PM by: sbugsch kmalyn malynj Health related issues Please feel free to discuss calcium, cateracts, ovarian failure, tremors and any other health concerns. 08:01:11 AM by: krirysmom kmalyn malynj Learning problems and speech delays This is for the discussion of learning problems and speech delays related to galactosemia. 12:04:46 AM by: sbugsch kmalyn malynj Conferences and conference notes This section is for discussions about galactosemia conferences, and for posting notes from recent conferences.

64. Galactosemia From PerkinElmer - USA The incidence of galactosemia is 114000 – 160000. The untreated disorder will cause poor development, and in the worst case fatality. http://las.perkinelmer.com/Catalog/default.htm?CategoryID=Galactosemia

65. Galactosemia - Children's Hospital Boston Home galactosemia. Flower galactosemia. Programs that treat this condition or perform this procedure. Metabolism Program. Unfortunately, at this time, http://www.childrenshospital.org/az/Site934/mainpageS934P0.html

or find by letter: A-F G-L M-R S-Z My Child Has... Home Galactosemia Galactosemia Programs that treat this condition or perform this procedure Metabolism Program Unfortunately, at this time, we are not able to provide information about this condition or procedure. However, we will be frequently adding and updating information in Child Health A to Z. So please bookmark this site and visit us again soon. Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School Contact Us Privacy Accessibility Give Now Children's Hospital Boston 300 Longwood Avenue Boston MA 02115

66. Galactosemia | Free Term Papers galactosemia galactosemia is an inborn error of metabolism. Because of energy barriers, essentially none of the chemical reactions that take place in living http://www.oppapers.com/term-papers/38045.html

Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels='ROI_Casino,ROI_Dating,ROI_Over 18,_GNM_18+,_GNM_Casino,_GNM_CollegeWeb,_GNM_Dating,_GNM_NewsInformation,_GNM_QLook,_GNM_QPlus,_GNM_RON_J,_GNM_RON_Q'; SEARCH BROWSE JOIN FOR FREE TOP LISTS ... CHUCKIII RSS Feed Custom Essays Term Papers Internships Frat ... Files Search Over 50,000 Term Papers at FratFiles.com Go Directly to FratFiles.com what the fuck! there plain and simlpe we all say it. - delex Sponsored listings from FratFiles.com Monosaccharides Prenatal Diagnosis: Heredity Disorders, Other Biochemical Diseases, A Sponsored listings from FratFiles.com Galactosemia by oppapers Claim this Paper March 7, 2002 Category: Science Words: Pages: Views: Popularity Rank: Average Member Grade: N/A Add a Comment / Grade this Paper Report this Paper Printable Version (formatted) Save to My Folder FROM THE AUTHOR Add an Author Comment The author has not made any comments about his or her paper.

67. Galactosemia | Free Term Papers galactosemia galactosemia is a genetically inherited metabolic disorder. This disorder leaves the disabled with a partial or complete lack of the enzyme http://www.oppapers.com/term-papers/42272.html

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68. -- Altered Metabolism Of Galactose Due To Deficient Enzyme Activity Or Impaired galactosemia results from the deficiency of one of three different enzymes, Classic galactosemia refers to the complete deficiency of the GALT enzyme. http://pedclerk.bsd.uchicago.edu/galactosemia.html

GALACTOSEMIA Definition: Milk and dairy products contain lactose (glucose + galactose), the major dietary source of galactose. The metabolism of galactose produces fuel for cellular metabolism through its conversion to glucose-1-phosphate. Galactose also plays an important role in the formation of glycoproteins, glycolipids, and glycosaminoglycans. Galatactosemia is the altered metabolism of galactose due to deficient enzyme activity or impaired liver function resulting in elevated blood galactose concentration. Galactosemia results from the deficiency of one of three different enzymes, each with a distinct phenotype. Disorder Enzyme Deficiency Symptoms Description Classic Galactosemia Galactose-1-phospate uridyl transferase (GALT) Liver and renal dysfunction, cataracts, abnormal neurodevelopment, premature ovarian failure Most common and most severe form. Galactokinase Deficiency Galactokinase Bilateral cataracts, will resolve with dietary therapy Benign Generalized UDPgalactose-4-epimerase Deficiency Uridine diphosphate galactose 4-epimerase Similar to classic galactosemia with additional findings of hypotonia and nerve deafness Benign variant is common, when the defect is localized to red blood cells- no treatment required

69. Galactosemia galactosemia is a hereditary disease that is caused by the lack of a liver Final galactosemia results are faxed to the physician/health care provider http://www.dhss.mo.gov/Lab/Newborn/Galactosemia.html

DHSS Home State Home Ask Us Home ... Contact Us breadCrumbs("main",">>","index.htm","crumb","crumb","crumb","0"); Galactosemia Galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. The genetic disorder is transmitted as an autosomal recessive disease. Galactose is a breakdown product of lactose, which is most commonly found in milk products. When galactose cannot be broken down, it builds up in the cells and becomes toxic. If not diagnosed and treated it can lead to diarrhea, dehydration, jaundice, hepatic failure, hypoglycemia, cataracts, developmental retardation and death. Sepsis due to E. coli seems to be particularly frequent among galactosemic neonates and is usually the cause of death. Treatment of the disease consists of withdrawal of all foods containing lactose and galactose from the diet. Prevalence in Missouri: Analyte Measured: Galactose-1-Phosphate Uridyl Transferase Reporting Results: Normal: The final newborn screening reports are mailed to the submitter and physician of record.

70. Galactosemia - YourDictionary.com - American Heritage Dictionary Search Mamma.com for galactosemia . TYPE IN YOUR WORD CLICK GO! Search. Normal, Definitions, Short defs. (Pronunciation Key). ga·lac·to·se·mi·a Listen http://www.yourdictionary.com/ahd/g/g0012000.html

Search Mamma.com for "galactosemia" Search: Normal Definitions Short defs (Pronunciation Key) ga·lac·to·se·mi·a Listen: g -l k t -s m n. An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose. The disorder results in elevated levels of galactose in the blood and, if untreated, can lead to mental retardation and eye and liver abnormalities. ga·lac to·se mic adj. Back to Search Back The American Heritage Dictionary of the English Language, Fourth Edition

71. Galactosemia Health care centre, teaching and research hospital Vancouver Hospital and Health Sciences Centre in British Columbia Canada. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_galactosemia.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Adreno-leukodystrophy ... Cystinuria Galactosemia Gaucher Disease Glycogen Storage Disease Homocystinuria Maple Syrup Urine Disease ... Urea Cycle Defects Galactosemia This area will soon contain updated information. Please see the resources section for other sites of interest. About VHHSC Reaching Out Patient Info Health Professionals ... Employment Info

72. BioMed Central | Full Text | The Clinical And Molecular Spectrum Of Galactosemia A positive diagnosis of galactosemia was made in 17 patients between the years 1980 to galactosemia is an autosomally inherited disorder of galactose http://www.biomedcentral.com/1471-2431/2/7

home journals A-Z subject areas advanced search ... Volume 2 Viewing options Abstract Full text PDF Associated material: Pre-publication history PubMed record Related literature: Articles citing this article on Google Scholar Other articles by authors Henderson H ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Research article The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa Howard Henderson Felicity Leisegang Ruth Brown and Brian Eley Department of Chemical Pathology and School of Child and Adolescent Health, Red Cross Children's Hospital, University of Cape Town, Cape Town, South Africa Dept of Pediatrics, and School of Child and Adolescent Health, Red Cross Children's Hospital, University of Cape Town, Cape Town, South Africa BMC Pediatrics The electronic version of this article is the complete one and can be found online at: http://www.biomedcentral.com/1471-2431/2/7 Received Accepted Published Outline Abstract Abstract Background Methods Results ... Pre-publication history Background The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region.

73. Caremark.com galactosemia is an inherited disease in which the transformation of galactose to If galactosemia is untreated, high levels of galactose cause vomiting, http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

74. Icon Health Publications Galactosemia A Medical Dictionary Icon Health Publications galactosemia A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References,Conservative,Book Club http://www.forbesbookclub.com/bookpage.asp?prod_cd=IR060

75. Disorders Associated With Carbohydrate Metabolism See episode 210, March 9, 1981, The Red/White Blues. Family Village on galactosemia Links to OMIM References G6PD and Favism Lactose Intolerance http://www.people.virginia.edu/~rjh9u/lactase.html

G6PD Deficiency Favism Cpl. Klinger of M*A*S*H* had the G6PD Med allele See episode 210, March 9, 1981, The Red/White Blues Family Village on Galactosemia Links to OMIM References G6PD and Favism Lactose Intolerance This document maintained by Robert J. Huskey Last updated on April 25, 1997.

76. The Columbia Encyclopedia, Sixth Edition: Galactosemia@ HighBeam Research The Columbia Encyclopedia, Sixth Edition galactosemia@ HighBeam Research. http://www.highbeam.com/ref/doc0.asp?docid=1E1:galactsem

77. SimulConsult Cases Blog: Galactosemia His neonatal screening test, which showed galactosemia, was not received at the testing lab until 3 days after his death. Click hyperlinked findings in the http://simulconsult.com/neurologicalsyndromes/reports/galactosemia.html

Cases Blog: Galactosemia A September 1999 account on the Save Babies Through Screening Foundation web site told the tragic story of T . He went home at 24 hours of age with plans to get his neonatal screening at 5 days of age: When we took him in for the test, the doctor realized T had jaundice and performed a test for that as well. His jaundice level was 29.8 which is critically high. T was admitted back to the hospital for four days under bili lights to bring his jaundice level down. While at the hospital, he became increasingly more lethargic , non-responsive to pain, and continuously vomited feedings. All these complaints were dismissed because they seem to be such "common" symptoms for newborns. He went home but returned within hours due to extreme lethargy and he died several days later of septicemia. His neonatal screening test, which showed Galactosemia, was not received at the testing lab until 3 days after his death. Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes.

78. OMIM - GALACTOSEMIA http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230400

79. Entrez PubMed CONCLUSION The development of POF in females with galactosemia is more likely if the patient s genotype is Q188R/Q188R, if the mean erythrocyte Gal1-P is http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

80. POF Support Group: Galactosemia And Turners Syndrome This site provides support and information for women with Premature Ovarian Failure (POF). Endocrine disorder affecting women under 40, causes profound http://www.pofsupport.org/information/resources/linkgts.htm

About the POFSG Contact Us Our Mission Our History ... Home GALACTOSEMIA AND TURNERS SYNDROME Parents of Galactosemic Children, Inc. 2871 Stage Coach Drive Valley Springs, California 95252 http://www.galactosemia.org Turner's Syndrome Society of the United States 1313 SE Fifth Street, Suite 327 Minneapolis, MN 55414 http://www.turner-syndrome-us.org Infertility Adoption Donor Egg / IVF ... Web Site Rules Would you like to submit a link for us to include in this resource list? email resources@pofsupport.org POF Support Group Website Rules

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