21. ORPHANET® : Cystinosis ORPHANET. Orphanet database access. cystinosis. Direct access to data The diagnosis of cystinosis is confirmed by determining the cystine content of leukocytes. http://www.orpha.net/static/GB/cystinosis.html

Orphanet database access Cystinosis Direct access to data Summary Full text http://www.orpha.net/data/patho/GB/uk-cystin.pdf Clinical signs Autosomal recessive inheritance Mental retardation(mild) Metabolism of aminoacids abnormal Renal disease Short stature/dwarfism Hypothyroidy Visual loss-mild/suspected Update : 01/06/2004 Orphanet database access

22. Cystinosis - Patient UK cystinosis Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. cystinosis. http://www.patient.co.uk/cystinosis.htm

Cystinosis UK sources of information and / or support Support for those born with the disorder and their families, whilst raising awareness of it to the medical fraternity (particularly at GP level). Related pages Self help groups Cystinosis Foundation United Kingdom Top of Page Home Information Leaflets ... Find me a... Find information about Phone a GP Your Surgery Medical Insurance Related: Self help groups Glossaries Print this page Patient UK is a CHIQ partner How can I Judge the quality of health information? Feedback Add link Advertise About Us ... EMIS and Patient Information Publications 1997-2004

23. Cystinosis Foundation United Kingdom - Patient UK cystinosis Foundation United Kingdom Patient UK. A directory of provide patient information. cystinosis Foundation United Kingdom. http://www.patient.co.uk/showdoc.asp?doc=26740027

24. Disease Directory : Rare Disorders : Cystinosis BENCHMARK analysis of nephropathic cystinosis BENCHMARK analysis of nephropathic cystinosis, G2D Home. cystinosis - cystinosis. http://www.diseasedirectory.net/Rare_Disorders/Cystinosis/default.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Rare Disorders : Cystinosis BENCHMARK analysis of nephropathic cystinosis - BENCHMARK analysis of nephropathic cystinosis, G2D Home. GO TO: The number indicates the strength of association to nephropathic cystinosis. Clinical Trial: Kidney Transplantation in Patients with Cystinosis - Kidney Transplantation in Patients with Cystinosis. Cystinosis is a rare disease affecting children that causes growth retardation and kidney failure. Corneal Crystals Secondary to Cystinosis - Corneal Crystals Secondary to Cystinosis Don W. Lyon, OD, FAAO Indianapolis Eye Care Center Indiana University School of Optometry Discussion: Cystinosis is a Cystinosis - Cystinosis. Cystinosis is an inherited metabolic disorder first recognized in the 1930’s by Fanconi. In children who inherit two Cystinosis - Cystinosis. The patients. A later onset form with milder renal disease also occurs, referred to as "intermediate" or "adolescent" cystinosis. Cystinosis - Support Page Cystinosis. Cystinosis Foundation 17 Lake Ave Piedmont, CA 94611 Phone: (510) 601-6940 Online information: Cystinosis

25. Disease Directory : Cystinosis Support Page cystinosis....... Diseases Rare Disorders cystinosis cystinosis. Directory Listing. Title cystinosis http://www.diseasedirectory.net/detailed/27371.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Cystinosis : Cystinosis Directory Listing Title: Cystinosis Description: Support Page Cystinosis. Cystinosis Foundation 17 Lake Ave Piedmont, CA 94611 Phone: (510) 601-6940 Online information: Cystinosis Date Added: 2/17/2004 4:04:25 PM URL: http://www.kumc.edu/gec/support/cystinos.html

26. Cystinosis cystinosis cystinosis Foundation, Inc. Allvolunteer, non-profit organization dedicated to providing services for those suffering from cystinosis. http://my.webmd.com/hw/health_guide_atoz/shc29cys.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Cystinosis Research Network Cystinosis Cystinosis Foundation, Inc. National network. All-volunteer, non-profit organization dedicated to providing services for those suffering from cystinosis. Provides information and referrals. Parent directory and national registry. Offers conferences, newsletter, public education, listserv, web support and literature. Online e-groups and message board. WRITE: Cystinosis Fdn., Inc. 604 Vernon St. Oakland, CA 94601 CALL: 1-800-392-8458 E-MAIL: Frank@cystinosis.com WEBSITE: http://www.cystinosisfoundation.org VERIFIED: 3/14/2003 Cystinosis Research Network Online. Founded 1996.

27. Cystinosis cystinosis Important It is possible that the main title of the report cystinosis is not the name you expected. Adult cystinosis. General Discussion http://my.webmd.com/hw/health_guide_atoz/nord59.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Cystinosis Important It is possible that the main title of the report Cystinosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cystine Storage Disease Fanconi II Lignac-Fanconi Syndrome Disorder Subdivisions Infantile Cystinosis Juvenile Cystinosis Nephropathic Cystinosis Nephrotic-Glycosuric-Dwarfism-Rickets-Hypophosphatemic Syndrome de Toni-Fanconi Syndrome Intermediate Cystinosis Dwarfism with Rickets Adolescent Cystinosis Lignac-Debre-Fanconi Syndrome Benign Cystinosis Infantile Fanconi Syndrome with Cystinosis Aminoaciduria-Osteomalacia-Hyperphosphaturia Syndrome Abderhalden-Kaufmann-Lignac Syndrome Adult Cystinosis General Discussion Cystinosis is a rare inherited disorder characterized by the impaired transport of cystine out of parts of cells called lysosomes. Cystine is an amino acid found in many different proteins in the body. Lysosomes, which are membrane bound particles within cells, aid in intracellular digestive function. Cystinosis is characterized by the accumulation of cystine in tissues throughout the body, which can cause certain organs to malfunction.

28. Cystinosis Research Network cystinosis Research Network. Has moved to a new location click here to go there now. http//www.cystinosis.org/. http://www.medhelp.org/cystinosis/INDEX.htm

Cystinosis Research Network Has moved to a new location click here to go there now http://www.cystinosis.org/

29. Cystinosis Articles, Support Groups, And Resources cystinosis articles, support groups, and resources for patients from Med Help International (www.medhelp.org). Health cystinosis. Support http://www.medhelp.org/HealthTopics/Cystinosis.html

[Health Topics A-Z] A B C D ... Z Cystinosis Support Groups: Cystinosis Foundation Cystinosis Research Network [Med Help Home] [Library Search] ... [Patient Network] Revised: 6/2/2004

30. Health Library - cystinosis. cystinosis is a rare inherited disorder characterized by the impaired transport of cystine out of parts of cells called lysosomes. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

31. Health Library - cystinosis. This information is provided as a resource and does not constitute an endorsement for any group. cystinosis Foundation, Inc. National network. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

32. Cystinosis Information cystinosis Information. What is cystinosis? cystinosis is a genetic disease characterized by the accumulation of amino acid cystine http://www.keysystemsplus.com/stardrifter/cystinosis.html

Cystinosis Information What is Cystinosis? Cystinosis is a genetic disease characterized by the accumulation of amino acid cystine in organs of the body eventually causing kidney disease. Symptoms such as excessive thirst and urination, failure to thrive, rickets, and episodes of dehydration begin in infantile Cystinosis between the ages of 6-18 months. Click here to visit the Cystinosis Foundation Website to learn more about this disease. Other web sites with Cystinosis information: The Cystinosis Research Network Cystinosis Central Yahoo Cystinosis Support Group UK 2004 DATES: February 13-15 This is the 11th Anniversary of the Sweetheart Balloon Rally An annual balloon rally is held in February of each year here in Southern Minnesota. Usually 7-10 Balloonists fly. For the rides that are given, 100% of money donated goes to the Cystinosis Foundation for research. Please send any email/inquiries to: StarDrifter@KeySystemsPlus.Com Back to Main Page Champagne Flight Balloon Information ... Sweetheart Rally Updated: 12/30/03

33. NEJM -- Sign In cystinosis. William A. Gahl, MD, Ph.D., Jess G. Thoene, MD, and Jerry A. Schneider, MD. 2 All patients with cystinosis appear to have mutations in CTNS. http://content.nejm.org/cgi/content/full/347/2/111

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

34. NEJM -- Swallowing Dysfunction In Nephropathic Cystinosis Original Article from The New England Journal of Medicine Swallowing dysfunction in nephropathic cystinosis. 2002). cystinosis. http://content.nejm.org/cgi/content/abstract/323/9/565

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 323:565-570 August 30, 1990 Number 9 Next Swallowing dysfunction in nephropathic cystinosis BC Sonies, EF Ekman, HC Andersson, MD Adamson, SG Kaler, TC Markello, and WA Gahl Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information Department of Rehabilitation Medicine, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892. This article has been cited by other articles: Chik, C. L., Friedman, A., Merriam, G. R., Gahl, W. A. (1993). Pituitary-Testicular Function in Nephropathic Cystinosis. Ann Intern Med [Abstract] [Full Text] Geelen, J. M., Monnens, L. A. H., Levtchenko, E. N. (2002). Follow-up and treatment of adults with cystinosis in the Netherlands. Nephrol Dial Transplant [Abstract] [Full Text] Gahl, W. A., Thoene, J. G., Schneider, J. A. (2002). Cystinosis. N Engl J Med [Full Text] Markello, T. C., Bernardini, I. M., Gahl, W. A. (1993). Improved Renal Function in Children with Cystinosis Treated with Cysteamine. N Engl J Med [Abstract] [Full Text] Anikster, Y., Lacbawan, F., Brantly, M., Gochuico, B. L., Avila, N. A., Travis, W., Gahl, W. A. (2001). Pulmonary Dysfunction in Adults With Nephropathic Cystinosis.

35. Cystinosis - Medical Dictionary Definitions Of Popular Medical Terms cystinosis A genetic disease characterized by the widespread deposition of the amino acid cystine in cells due to a defect in cystine transport. http://www.medterms.com/script/main/art.asp?articlekey=21935

36. ORPHAN EUROPE - Cystinosis What is cystinosis ? cystinosis belongs to the group of disorders known as inborn errors of metabolism. Metabolism is the word used http://www.orphan-europe.com/cystinose_gb.html

your country: D GB F E I PL S SF DK N print page email page search Homepage Welcome The Orphan drug legislations Background Who are we? ... Congenital Sucrase-Isomaltase Deficiency Orphan Europe (UK) Ltd. Patient organisations Contact What is cystinosis ? Cystinosis belongs to the group of disorders known as inborn errors of metabolism. Metabolism is the word used to describe the chemical reactions which take place in the body. There are many metabolic disorders and all have different features depending on which process is affected. Cystinosis is a disease affecting the metabolism of cystine. Cystine is an amino acid. Amino acids are organic substances which when linked together form proteins which are major constituents of cells. Their breakdown takes place in special structures within body cells called lysosomes. Cystinosis occurs when the transport system of cystine out of the lysosomes fails, thus allowing it to accumulate within the cells. Cells loaded with cystine cannot work normally. The major organs that are usually first affected are the kidney and eyes. What are the symptoms?

37. Entrez PubMed Abstract, Molecular pathogenesis of cystinosis Effect of CTNS mutations on the transport activity and subcellular localisation of cystinosin. Hum Mol Genet. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?dispmax=100&db=PubMed&doptcmdl=Doc

38. OMIM - CYSTINOSIS, NEPHROPATHIC; CTNS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219800

39. CYSTINOSIS Features Listed For cystinosis. McKusick 219800. Aminoaciduria; Cloudy corneae/sclerocornea; Intracranial calcification; Nephritis or nephropathy; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?401

40. Cystinosis cystinosis,. Print this article, a rare familial crystal deposition disease manifested by widespread deposits of cystine crystals http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/CYSTINOSIS.ASP

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Cystinosis, a rare familial crystal deposition disease manifested by widespread deposits of cystine crystals in the tissues of the body, specifically within cellular lysosomes. Infantile, juvenile, and adult varieties have been identified. Frequently damage to renal tubules and glomeruli results in electrolyte imbalance, cardiac failure, anaemia, rickets, and retinopathy. Cystine crystals may be deposited in bone, but the relationship of these lesions to radiolucent cystic lesions observed in bones and joints is not clear. DR The Encyclopaedia of Medical Imaging Volume III:1 Contacts GE Healthcare Making Waves

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20