81. National Referral Laboratory Canavan disease (aspartylacylase deficiency) Molecular analysis (E285A,Y231X andA305E Classical form) Galactosephosphate uridyl transferase (galt) activity http://www.health.adelaide.edu.au/NRL/tests_alpha2.htm

Data is current to 31st August, 2001 Disease Index: A B C D E F G H I ... P Q R S T U V W X Y Z This page contains a list of the disorders tested in our laboratory. The list is focussed on lysosomal and peroxisomal disorders but also includes other genetic disorders for which there are reliable biochemical test protocols existing in the laboratory. This page can be navigated in various ways. You can search our Alphabetical disease index (above) for links to tests for a specific disorder, jump using the Disease group index The disease names are also cross referenced to OnLine Mendelian Inheritance in Man (OMIM). Click a disorder to find out the latest information. Enzyme analyses are performed weekly and most mutation analyses are performed within 10 days. The turn-around time for prenatal diagnoses depends on the approach (direct analysis or cell culture) but every effort is made to provide the speediest result for the patient. Alphabetical disease index Acyl CoA oxidase deficiency Adrenoleucodystrophy (ALD), neonatal Adrenoleucodystrophy (ALD), X-linked Adrenomyeloneuropathy (AMN), X-linked ... Zellweger syndrome Disease group index Neurolipidoses Mucopolysaccharidoses Peroxisomal disorders Glycogen storage disorders ... Miscellaneous NEUROLIPIDOSES Neurolipidoses Screen (or White Cell/Lysosomal Enzymes): Our laboratory offers a first-tier screen for lysosomal storage disorders using 14 lysosomal enzymes (cost) . The screen requires 10mL EDTA blood or the corresponding leucocytes but can also be performed on

82. Alberta: The St. Mary River the many rivers of southern Alberta to overcome its deficiency in rainfall AlbertaIrrigation Company (AI Co.), a joint venture between the galt companies and http://collections.ic.gc.ca/soilandwater/alsmid.htm

History of Irrigation Districts The St. Mary Irrigation District (S.M.R.I.D.) The St. Mary River is the source for major irrigation activities in southern Alberta. An international stream, it is thus subject to special agreement between Canada and the United States. It was the intention of the company to build a railway to transport the coal to the Canadian Pacific Railway (CPR) main line at Medicine Hat, but the general economic depression of the mid-1880's hampered financing and the firm sought government assistance. The Federal Land Act was then amended to grant the company a land subsidy of 965 hectares per kilometre of track constructed. This 177 kilometre long narrow-gauge railway was completed in 1885. They were then granted a further 644 hectare-per-kilometre land subsidy to widen the line to standard gauge, for a total of 284,900 hectares. William Pearce, as Superintendent of Mines for the federal government, was broadly in charge of western settlement. An ardent advocate of western resource development, he firmly believed that the foremost problem in Western Canada, the irregularity of rainfall, could be remedied through irrigation. Largely through his efforts the Northwest Irrigation Act was passed in 1894. Under this legislation, government survey crews drew up plans for the construction of irrigation works which would service lands settled by the Mormons, by diverting water from the St. Mary River. Construction was started in 1898. The 10,100 hectares of irrigated land were in two large tracts with their centers 32 and 56 kilometres from Lethbridge. To finance and undertake this construction work, the Alberta Irrigation Company was reorganized in 1896 with a capital stock of $1 million under the name Canadian North-West Irrigation Company (C.N.W.I. Co.).

83. Immune System; Immunology; Antibodies sIgA deficiency is associated with increased gastrointestinal tract permeabilityand increased cells are found in large numbers in the neonatal galt, which on http://www.nutramed.com/immunology/antibodies.htm

Home Products and Services Medical Information Orders ... Modular Nutrition Immunology Antibodies Alpha Nutrition Health Education Food Allergy Center Introduction to Immunity Immune Networks Immune Cells ... Hypersensitivity Disease Study Guide Antibodies are serum proteins or immunoglobulins. These proteins comprise a memory system which detects antigens and then links antigens to an effector system that defends against the antigen and associated structures. Antibodies are secreted by B-lymphocytes ( transformed to plasma cells in tissue spaces). Antibodies may be free-floating in the serum and combine with antigen to form immune complexes. Or antibodies may be attached to cell-surface antigens, acting as receptors. The sensing ends of antibodies form an antigen recognition site - the tips of the y-shaped molecule which encode antigen recognition are known as the hypervariable region. Antibodies also have action sites which activate complement and/or phagocytic cells - the effector system. Antibodies attaching to bacterial cell-surface antigens, for example, will activate complement or attract phagoctytic cells to cause bactericidal action. There are 5 main antibody types: IgA: circulating and secreted on all defended body surfaces, as the first defense against invaders. Secretory (s IgA) is found in large amounts in breast milk, saliva, and gastrointestinal secretions. IgA may be an important and effective antibody in sites other than mucosal tissues, such as the central nervous system. IgA inhibits the binding of micro-organisms to mucosal surfaces, preventing entry. IgA plays a similar role in reducing antigen entry through mucosal surfaces. sIgA deficiency is associated with increased gastrointestinal tract permeability and increased manifestations of delayed patterns of food allergy.

84. Screening Journal Labor. Proben. galt Epi. Kinase. Duarte2 Comp. 1. DC. Gal. galt. 3. Chemnitz. 2419 Gal1-P. galt. 11. Heidelberg. 62526 http://www.med-rz.uni-sb.de/med_fak/paed-endokr/ScrJ-Ausgaben/SJ_97_2.pdf

85. 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

Galactosemia Test Biochemical assay detecting galactose uridyl transferase and galactose-one-phosphate (the Beutler test ). Heat and humidity degrade the transferase, yielding false positives. Hill test : fluorometric assay for galactose, used with Beutler, only positive after milk ingestion Paigen E. coli phage test : more reliable, also identifies other galactose disorders Confirmatory test Urine for non-reducing substances (+++ galatosemia, + galactokinase or epimerase deficiency, ++ in Vit. C), if negative, likely problem with fructose metabolism serum galactose and gal-1-phosphate, erythrocyte gal-1-phosphate uridyltransferase (by electrophoresis) Genetics Autosomal recessive 1:60,000 to 1:80,000 Pathology A cellular deficiency in one of the enzymes needed to convert galactose to glucose. Galactose-1-phosphate uridyl transferase (GALT) deficiency is the defect in the severe form of the disease Diagnosis Symptoms occurs within the first two weeks of life: jaundice, vomiting, lethargy, hepatosplenomegaly, cataracts, and failure to thrive may proceed to severe morbidity from liver failure, sepsis, or bleeding. Death may occur. E. coli

86. Search The EWG Farm Subsidy Database Details of USDA subsidies paid to Ben R galt of Wht Sphr Spgs, MT 59645 LoanDeficiency Payments, $0, $0, $1,980, $5,419, $0, $0, $7,399. http://www.ewg.org/farm/farmerdetail.php?pid=E7O8GW4

87. “œŽ¿‰ÈŠw‚Ì‚±‚Æ‚Î / GlycogeneA-01 The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.glycoforum.gr.jp/science/word/glycogene/GGA01J.html

References Asano M, et al.: Growth retardation and early death ofƒÀ -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 ƒÀ -1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality. Dev. Biol. 181, 257-267, 1997 Lu Q, Shur, BD,: Sperm from ƒÀ1,4-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 fromƒÀ-1,4-galactosyltransferase-knockout mice. Biochem. Biophys. Res. Commun. 245, 860-864, 1998 Kotani N, et al.: ImpairedƒÀ-1,4-galactosylation of core 2 0-glycans in erythrocytes ofƒÀ-1,4-galactosyltranferase knockout mice. Biochem. Biophys. Res.Commun. 260, 94-98, 1999 Kotani N, et al.: Knockout of mouseƒÀ1,4-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-acetylglucosamineƒÀ -1,4-galactosyltransferase-I causes the congenital disorder of glycosylation type IId. J. Clin. Invest. 109, 725-733, 2002

88. Katalog :  : Health : Conditions_and_Diseases : G :  - Netz-Tipp.De GALTDeficiency (*); Gastric Cancer (*); Gastrointestinal Disorders (*); http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/G/

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