41. Matching Tests fabrys disease DNA. Alpha-Galactosidase. Factor 8. AHF. Anti-Haemolytic Factor. Clotting Factors. Coagulation Factors. Factor VIII. Factor VIIIc http://www.palmslab.com.au/labinfo/test.php?Testname=A&Orgcode=&SearchType=1

42. Index Of /wiki/en/fa/ Fairfield, Victoria Fawkner, Victoria FA National League System Cup fabrys disease Far Eastern Federal District Farnesyltransferase inhibitor http://www.yotor.com/wiki/en/fa

Index of /wiki/en/fa/ Fairchild Channel F Factorial Fallacies of definition Falconiformes ... Fat Choy (vegetable) www.yotor.net Help for Alcoholics Baseball Posters Nokia 6680 Link Popularity ... No Fax Payday Loans

43. Enzyme Effective In Rare Fabry's Disease CNN http://cnn.com/2001/HEALTH/conditions/07/05/fabrys.disease.ap/index.html

44. Fabry's Disease Information Page: National Institute Of Neurological Disorders A Fabry s disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Fabry's Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Fabry's Disease NINDS Fabry's Disease Information Page Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Fabry's Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Fabry's Disease? Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase , also called alpha-galactosidase-A Is there any treatment? Enzyme replacement may be effective in slowing the progression of the disease. The pain in the hands and feet usually responds to anticonvulsants such as phenytoin and carbamazepine. Gastrointestinal hyperactivity may be treated with metoclopramide. Some individuals may require dialysis or kidney transplantation. What is the prognosis?

45. Eyeupdate.com 1 This symptomatic female carrior of Fabry s disease shows the classic In male patients with Fabry s disease, the main sympton is intermittent attacks http://www.eyeupdate.com/pages/fabrys-disease.html

Fabry's Disease Subjective A 67-year-old white female presented for a routine eye examination with typical visual complaints of occasional blur at distance and near. Her current eyeglasses are four years old. She has experienced mild photophobia in bright light and while driving at night. The patient is taking ranitidine hydrochloride (Zantac) and loratadine (Claritin D) and is allergic to ibuprofen (Motrin). There is no known personal or family history of ocular disease, surgery or injury. Objective: Visual acuity: (20/25) OU Pupils: equal, round and reative OU Lids: uninvolved OU Conjunctiva: slight injection OU Cornea: both corneas demonstrated a pronounced browish-tan verticillate pattern within the sub-epithelial tissues ( Fig.1 ). There was no disruption of precorneal tear film as demonstrated with flurescein dye Fig. 1 This symptomatic female carrior of Fabry's disease shows the classic whorl-like deposits in the basal layer of the corneal epithelium. Lens: Grade I nuclear sclerotic cataracts OU Tension by applanation: 17/17 mm Hg at 9:30am Dilated fundus exam: 0.2 cup-t0-disc OU with maculae clear; slight tortuosity to the retinal blood vasculature OU

46. A-Galactosidase A/Fabry's Disease What is the effectiveness of agalactosidase A in the treatment of Fabry s disease. Fabry s disease is a rare genetic disorder of lipid metabolism http://www.arif.bham.ac.uk/requests/f/fabrys.htm

a - Galactosidase A Fabry's Disease Table of Contents The Problem Submitted For ARIF To Advise Upon Reviews Identified Comments Return to A-Z List of Requests for Information - Completed ... ARIF Home Page WARNING The information is only a very brief summary of that available at the time. It was primarily designed to give readers a starting point to consider research evidence in a particular area. Readers should not use the comments made in isolation and should read the literature suggested. Readers should also be aware that more appropriate evidence may have become available since the request was undertaken. ARIF does not routinely update the advice on these pages. The Problem Submitted For ARIF To Advise Upon What is the effectiveness of a-galactosidase A in the treatment of Fabry's Disease. Fabry's disease is a rare genetic disorder of lipid metabolism characterised by deficiency of the enzyme alpha-galactosidase A which leads to the accumulation of fatty deposits within various organs in the body. Symptoms of the disease include abdominal pain and visual impairment. Later in the course of the disease there maybe serious complications due to kidney failure, heart irregularities and progressive neurological abnormalities. More information on Fabry's Disease can be found on the website of the Back to the top Reviews Identified No systematic reviews were identified.

47. Citation Classic Commentaries - 1984 CITATION CLASSIC ENZYMATIC DEFECT IN fabrys-disease - CERAMIDETRIHEXOSIDASE DEFICIENCY CC/LIFE SCI (39) 20-20 1984 Original Paper Brady R 0, Gal AE, http://www.garfield.library.upenn.edu/classics1984/classics1984.html

Citation Classic Commentaries - MOELY BE CITATION CLASSIC - PRODUCTION DEFICIENCY IN YOUNG CHILDRENS CLUSTERED RECALL CC/SOC BEHAV SCI (52): 18-18 1984 COLEMAN CF CITATION CLASSIC - SOLVENT-EXTRACTION WITH ALKYL AMINES CC/PHYS CHEM EARTH (52): 18-18 1984 OSSERMAN EF CITATION CLASSIC - SERUM AND URINARY LYSOZYME (MURAMIDASE) IN MONOCYTIC AND MONOMYELOCYTIC LEUKEMIA CC/LIFE SCI (52): 18-18 1984 SPOONER BS CITATION CLASSIC - MICROFILAMENTS IN CELLULAR AND DEVELOPMENTAL PROCESSES CC/LIFE SCI (52): 19-19 1984 COLEMAN CF CITATION CLASSIC - SOLVENT-EXTRACTION WITH ALKYL AMINES CC/ENG TECH APPL SCI (52): 18-18 1984 LINDNER A CITATION CLASSIC - ACCELERATED ATHEROSCLEROSIS IN PROLONGED MAINTENANCE HEMODIALYSIS CC/CLIN PRACTICE (52): 18-18 1984 CHRISTIAN KR CITATION CLASSIC - MEASUREMENT OF FEED-INTAKE BY GRAZING CATTLE AND SHEEP .6. THE DETERMINATION OF CHROMIC OXIDE IN FECES CC/AGR BIOL ENVIRON (52): 18-18 1984 THAYER RE CITATION CLASSIC - MEASUREMENT OF ACTIVATION THROUGH SELF- REPORT CC/SOC BEHAV SCI (51): 18-18 1984 Original Paper : Thayer R E. Measurement of activation through self-report. Psycho!. Rep. 20:663-78, 1967.

48. Eyeatlas - Online Atlas Of Ophthalmology Eyeatlas. The online Atlas of Ophthalmology. fabrys disease. © Copyright Oculisti OnLine. http://www.eyeatlas.com/box/196.htm

Eyeatlas The online Atlas of Ophthalmology Fabrys' disease Oculisti OnLine

49. Eyeatlas - Online Atlas Of Ophthalmology fabrys disease fabrys disease Foreign body Foreign body Gerontoxon Hydrops Hurler s syndrome Hurler s syndrome Keratitis, Achantoameba http://www.eyeatlas.com/contents.htm

ANATOMY Eye anatomy ANTERIOR CHAMBER Angle, Closure Angle, Pigmentation Anterior chamber IOL Atalamia ... Synchysis scintillans CHOROID Angioid Streaks CONJUNCTIVA Allergic conjunctivitis, Giant papillae Allergic conjunctivitis, Giant papillae Allergic conjunctivitis, Giant papillae Amyloidosis ... Vernal conjunctivitis CORNEA Abrasion Abrasion Abrasion Alkali burn ... Wilson's disease EXTRAOCULAR MUSCLES Accomodative strabismus Accomodative strabismus Brown's syndrome Duane's syndrome ... Vertical dissociated deviation GLOBE Anophthalmos Anophthalmos GLAUCOMA Angle recession Glaucoma, Acute Glaucoma, Closure angle Glaucoma, Closure angle ... Trabeculectomy, Bleb INTRAOCULAR PRESSURE Bleb after trabeculectomy Glaucoma cupping Neovascular glaucoma Pseudoexfoliatio IRIS AND CILIARY BODY Aniridia Anisocoria Ciliary body adenoma Coloboma ... Wilson's disease LACRIMAL SYSTEM Canaliculitis Canaliculitis Dacryoadenitis Dacryocele ... Pseudocanaliculitis LENS Aphakia, Surgical Capsular fibrosis Capsular fibrosis Capsule rupture ... Pseudoexfoliatio lentis LID Allergy, Atropine

50. USATODAY.com - Tennessee Child Is First In U.S. Treated For Rare Genetic Disease An estimated 5000 people in the United States suffer from Fabry s disease. Most die from kidney failure, heart disease or other complications by the age of http://www.usatoday.com/tech/news/techinnovations/2003-10-07-fabrys-fix_x.htm

OAS_listpos = "PageCount,NavBottom120x90,Top728x90,Zaplet1,FloatBottom,Bottom468x60,VerticalBanner,Poster3"; Classifieds: Cars Jobs Dating USA TODAY ... Weather Tech Products Products home Edward C. Baig Jinny Gudmundsen Marc Saltzman Wireless Center Hotspot finder Wi-Fi primer Columnists Columnists index Andrew Kantor Kim Komando Kevin Maney ... WonderQuest More Tech Hot Sites Tech briefs Shareware Shelf Ask Kim Komando ... Classifieds Marketplace Music Shopping Special Offer Newspaper ... Classifieds Posted 10/7/2003 5:37 PM Today's Top Tech Stories Team finds stem cells in heart tissue Wireless tech to be deployed for Katrina Big names in tech change companies Microsoft to release new developers tools ... Add USATODAY.com RSS feeds E-Mail Newsletters Sign up to receive our free Tech e-newsletter E-mail: Select one: HTML Text OAS_AD("VerticalBanner"); Tennessee child is first in U.S. treated for rare genetic disease By William L. Holmes, Associated Press "He would just scream with pain in his hands and feet," Lawson said. "And then it would go away." Now, Derek Lawson is on his way to perhaps getting some relief from what doctors diagnosed as Fabry's disease, a rare, deadly, genetic disorder that keeps his body from breaking down a naturally occurring fatty protein.

51. Pathology DX Codes Fabry s disease, fabrys, Not Specified. Goodpasture s Snydrome, GOODPASTUR, Not Specified. Gout (Urate) Nephropathy, GOUT, Not Specified http://tpis.upmc.edu/tpis/clinicoPath.htm

athologic Diagnosis Final Clinico Pathologic Diagnosis Description DX Code Body System Biliary Alagille Syndrome, Kasai ALLSYNK Hepatic Alagille Syndrome, No Kasai ALLSYNO Hepatic Alagille Syndrome, Unknown ALLSYNUNK Hepatic Biliary Atresia, Unclassified BAUNK Hepatic Secondary Biliary Cirrhosis, Iatrogenic Hepatic Secondary Biliary Cirrhosis, Other, Specify Hepatic Secondary Biliary Cirrhosis, Trauma Hepatic Biliary Complications, Unspecified BICOMPUNS Hepatic Biliary Hypoplasia, Kasai BIHYPOK Hepatic Biliary Hypoplasia, No Kasai BIHYPOO Hepatic Biliary Hypoplasia, Unknown BIHYPOUNK Hepatic Caroli's Syndrome CAROLISYND Hepatic Extra and Intra-Hepatic Biliary Atresia, Kasai EIBAK Hepatic Extra and Intra-Hepatic Biliary Atresia, No Kasai EIBAO Hepatic Extra and Intra-hepatic Biliary Atresia, Unknown EIBAUNK Hepatic Extra-Hepatic Biliary Atresia, Kasai EXBAK Hepatic Extra-Hepatic Biliary Atresia, No Kasai EXBAO Hepatic Extra-Hepatic Biliary Atresia, Unknown

52. Fabrys Sjukdom - Små Och Mindre Kända Handikappgrupper Enzyme replacement therapy in heterozygous females with Fabry disease results of a phase Enzyme replacement therapy for Fabry disease lessons from two http://www.sos.se/smkh/2002-29-163/2002-29-163.htm

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Fabrys sjukdom Alfa-galaktosidas A-brist Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2005-04-21 HTML-version: 2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Annan behandling som kan vara aktuell: Praktiska tips Analyser av enzymaktivitet: Resurspersoner Docent Kurser, erfarenhetsutbyte, rekreation

53. Gauchers Sjukdom - Små Och Mindre Kända Handikappgrupper de lysosomala upplagringssjukdomarna, liksom bl a Sallas sjukdom och fabrys sjukdom. Beutler E. Enzyme replacement therapy for Gaucher´s disease. http://www.sos.se/smkh/1996-29-015/1996-29-015.htm

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Gauchers sjukdom Morbus Gaucher Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2004-09-13 HTML-version: 3.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos glukosylceramidas Orsak till sjukdomen/skadan Symtom Typ 1 Typ 2 Typ 3 Diagnostik Enzymbehandling Vid typ 1 Substratreduktion Kirurgisk behandling, Vissa Praktiska tips Resurspersoner anders.erikson.us@vll.se"

54. CJNS - Fabry’s Disease Presenting As Stroke In A Young Female Translate this page Abstract Background Fabry’s disease is an X-linked disorder, caused by a deficiency of the lysosomal enzyme a-galactosidase A which results in the http://www.cjns.org/31febtoc/fabrys.html

Abstract Close Window Paul S. Giacomini, Patrick T. Shannon, Joe T.R. Clarke, Cheryl Jaigobin Abstract: Background: Case: Discussion: Introduction: Discussion: Can. J. Neurol. Sci. 2004; 31: 112-114 For information about this web site e-mail to: journal@cjns.org

55. Rarelink.net - Diagnoslistan Fabrys Sjukdom Engelska, Svenska, Danska, Norska. Fabry disease, fabrys sjukdom; Alfagalaktosidas A-brist, Fabry sygdom, Fabry sykdom. http://www.rarelink.se/diagnosedetail.jsp?diagnoseId=24

56. Fabry's Disease - Anovulatory Menstrual Cycle Fabry s disease information. General Ailments Disorders Types Mental Health Home Remedies Home disease F Fabry s disease http://www.diseasesatoz.com/fabrys-disease.htm

Fabry's Disease General Ailments Disorders Types Mental Health Home Remedies ... Fabry's Disease Fabry's Disease information What is Fabry's Disease? Fabry's disease (angiokeratoma corporis diffusum universale) is a rare metabolic disorder affecting many organs, particularly the skin, kidneys, heart, eyes, and nerves. Lack of a -galactosidase A (E.C. 3.2.1.22; GalA), a lysosomal hydrolase crucial in glycosphingolipid metabolism, causes accumulation of neutral glycosphingolipids in many tissues. Epidemiology of Fabry's Disease The prevalence of Fabry's disease has been estimated as around 1:40,000, but may be higher. It has been described in black, Latin American, Indian, Egyptian, and Asian peoples. That most reported patients have been white may reflect reporting bias rather than a true racial difference. Symptom of Fabry's Disease Here are the list of some of the symptoms of Fabry's Disease : hearing loss. In boys with the disease, hearing loss is usally detectable by 8-10 years of age, and it may be severe enough to require the use of hearing aids. Hearing loss in girls tends to be much milder, rarely resulting in the need for hearing aids.

57. Rarelink.net - Diagnoselisten Fabry Sygdom Engelsk, Svensk, Dansk, Norsk. Fabry disease, fabrys sjukdom; Alfagalaktosidas A-brist, Fabry sygdom, Fabry sykdom. http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=24

58. Rarelink.net - Diagnoselisten Fabry disease Fabry sygdom - Fabry sykdom - fabrys sjukdom - Facio-Auriculo-Vertebral Spectrum (FAV) - Facio-scapulo-humeral muskeldystrofi 1A http://www.rarelink.dk/diagnoselist.jsp?capitalLetter=F&synonymsIncluded=true

59. Publications ROMEO, G; DURSO, M; PISACANE, A; BLUM, E; DEFALCO, A; RUFFILLI, A, RESIDUAL ACTIVITY OF ALPHAGALACTOSIDASE A IN fabrys-disease, 1975. ROMEO, G; MIGEON, BR http://143.225.208.11/igb/public/publications.php?language=en&action=find&qk_yea

60. [WinFlash] Q1= FIB %length Of Eye At Birth? A1= MC1 16-17 MC2 17 A60= MC1 Fabry s disease MC2 Fabry s MC3 fabrys MC4 fabry%Fabry s disease Q61= FIB %frontal bossing, baldness, and testicular atrophy? http://www.bashour.com/examprep/documents/pediatrics.FLS

[WinFlash] Q1= %length of eye at birth? A1= 16%16-17 mm Q2= %Why is AC shallow in normal infant eye? A2= lens larger lens lens relatively larger%lens relatively larger Q3= %Corneal Diameter at birth? A3= 10%9.5-10.5 mm Q4= %Miotic Pupils in Infancy due to? A4= immaturity of dilator pupillae muscle dilator pupillae muscle dilator pupillae%immaturity of dilator pupillae muscle Q5= %Timing Optic nerve myelinization vs foveal maturation? A5= 4-6 months before 4-6 months 6 months %Telecanthus A16= wide intercanthal distance normal interpupillary distance%A wide intercanthal distance and normal interpupillary distance is termed telecanthus. ^ ^This is a condition of soft tissue that often improves over time as the nose develops and the nasal bridge skin is pulled forward. Q17= %Hypertelorism A17= increased distance between the orbits increased interpupillary distance%increased distance between the orbits. **increased interpupillary distance**^ ^Clinical estimate of hypertelorism can be determined by measuring interpupillary distance; however, radiologic measurements are most accurate. Q18= Tx of Toxoplasmosis.jpg Q23=

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