21. Cystinosis cystinosis. cystinosis is an inherited metabolic disorder first recognizedin the 1930’s by Fanconi. In children who inherit two http://ww2.mcgill.ca/pedneph/Services/cystinosis.htm

The Montreal Children's Hospital Division of Pediatric Nephrology UN HOPITAL D'ENSEIGNEMENT McGILL UNIVERSITY A TEACHING HOSPITAL Centre universitaire de santé (CUSM) McGill University Health Centre (MUHC) Cystinosis In the spring of 1998, Antignac and an international group from France, England and Australia announced the isolation of the cystinosis gene (Nature Genetics 18:319-324, 1998). This accomplishment is likely to help us understand which patients will have the worst outcomes and will, hopefully, open the door to gene therapy in the future. We are currently collaborating with Dr. Alex MacKenzie (Children

22. Health Information Resource Database: Cystinosis Foundation cystinosis Foundation. Contact Information. cystinosis, a genetic disorder,afflicts from 200 to 300 children in the United States. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2199

23. Database Search Results Database Search Results. Searched keywords for cystinosis.cystinosis Foundation. NHIC Home Page http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Cystinosis

24. ORPHAN EUROPE - Cystinosis What is cystinosis ? cystinosis belongs to the group of disorders knownas 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? ... keywords 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?

25. 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 The full text of the Journal is available online for all subscribers to the print version. For Original Articles and Special Articles, six months after publication the full text becomes available to all registered users. Registered Users User Name Password Remember my user name and password. Forgotten the password? If you do not use cookies sign in here If you have purchased access to an article or the Journal website, you may regain access here First-Time Users If you are a Journal subscriber using the Journal On-line for the first time, you must register and choose a password. If you are not a Journal subscriber subscribe here If you would like full access to the Journal Web site for 24 hours for $29, click here To regain access to Journal Web site, click here If you would like full access to this article for $10, click here To regain access to a purchased article, click here If you would like free full access to all Original Articles and Special Articles beginning six months after publication register here If you cannot get past this page

26. NEJM -- Cysteamine Therapy For Children With Nephropathic Cystinosis Original Article from The New England Journal of Medicine Cysteaminetherapy for children with nephropathic cystinosis. cystinosis. http://content.nejm.org/cgi/content/short/316/16/971

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 316:971-977 April 16, 1987 Number 16 Next Cysteamine therapy for children with nephropathic cystinosis WA Gahl, GF Reed, JG Thoene, JD Schulman, WB Rizzo, AJ Jonas, DW Denman, JJ Schlesselman, BJ Corden, and JA Schneider Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Gahl, W. A. Schneider, J. A. Medline Citation Abstract This article has been cited by other articles: Tsilou, E T, Thompson, D, Lindblad, A S, Reed, G F, Rubin, B, Gahl, W, Thoene, J, Del Monte, M, Schneider, J A, Granet, D B, Kaiser-Kupfer, M I (2003). A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis. Br. J. Ophthalmol. [Abstract] [Full Text] Cherqui, S., Sevin, C., Hamard, G., Kalatzis, V., Sich, M., Pequignot, M. O., Gogat, K., Abitbol, M., Broyer, M., Gubler, M.-C., Antignac, C. (2002). Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis. Mol. Cell. Biol.

27. Cystinosis Information cystinosis Information. What is cystinosis? cystinosis is a geneticdisease 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 2003 DATES: February 14-16 This is the 10th 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: 2/09/03

28. EP Associations - The Cystinosis Foundation (CF) Associations Back. The cystinosis Foundation. The cystinosis Foundation(CF) is with this disorder. What is cystinosis? According to http://www.eparent.com/resources/associations/cystinosisFoundation.htm

RESOURCES EDUCATION HEALTHCARE LIFE PLANNING ... TOYS Eparent Services: Reader Feedback EP Library Archived Articles Publisher’s Message ... Children’s Page Search Eparent: Associations: The Cystinosis Foundation The Cystinosis Foundation (CF) is an all-volunteer, nonprofit organization dedicated to providing services to anyone dealing with cystinosis. Via a multifaceted network of supports, including both local and national conferences, education/awareness activities, fund-raising for research, and other efforts, CF members have at their disposal numerous sources of assistance for improving the quality of life of their family member with this disorder. What is cystinosis? It is estimated that 2,000 individuals worldwide have cystinosis, though exact numbers are difficult to obtain because the disease is often undiagnosed. With early detection and proper treatment, people with cystinosis can avoid serious health complications, such as kidney failure and neurological damage. There are three types of cystinosis, which can appear at any age: infantile nephropathic (usually from 6-8 months after birth), late-onset nephropathic (usually between ages 12 and 13), and benign non-nephropathic (usually in adulthood).

29. Cystinosis HOME cystinosis. Short description of cell lines. Pathology cystinosis, earlyonsetor infantile; cystinosis Central; cystinosis; THE cystinosis FOUNDATION; http://www.bdid.com/cystinosis.htm

HOME Cystinosis Short description of cell lines. Pathology: cystinosis, early-onset or infantile The Cystinosis Research Network cystinosisfoundation Revealing the molecular basis of cystinosis in Dutch patients by mutation ... HOME

30. Short Description Of Cell Lines. Pathology Cystinosis, Early- Version 4.200205, Short description of cell lines. Pathology cystinosis,earlyonset or infantile nephropathic type *219800 OMIM record. http://www.biotech.ist.unige.it/cldb/pat57.html

31. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cystinosis Similar pages BioMed Central Full text Nephropathic cystinosis associated Nephropathic cystinosis associated with cardiomyopathy A 27year clinical follow-upMehul P Dixit 1 and Ira Greifer 2 1 Division of Nephrology, Department of http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cystinosis

32. Cystinosis Research Network cystinosis Research Network. Has moved to a new location clickhere 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/

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

[Health Topics A-Z] A B C D ... Z Cystinosis Support Groups: Cystinosis Foundation [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

34. Cystinosis Infantile Browse backwards .. Browse forwards .. Menu. cystinosis Infantile. SynonymsEarlyonset Nephropathic Type; Lignac Disease McKusick No. 21980. 1. Physical. http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/81040.htm

Metabolic pathway illustrated Browse backwards Browse forwards Menu Cystinosis Infantile Synonyms Early-onset Nephropathic Type; Lignac Disease McKusick No. 1. Physical Failure to grow. Light hair. Fair(er) skin. Photophobia - corneal crystals of cystine. 2. Neurological 3. Gastrointestinal Vomiting. Anorexia. 4. Renal Polyuria [Fanconi syndrome] 5. Bone Hypophosphataemic rickets. 6. Comment Onset in first year of life. 7. Haematological 8. Biochemical "Fanconi Syndrome". Generalised aminoaciduria. Renal glycosuria. Enzyme [Lysosomal transport defect for cystine] EC number ................Diagnostics and therapy................ Treatment Symptomatic treatment of Fanconi syndrome Cysteamine (beta-mercaptoethylamine), a cystine depleting agent, as eye drops. Kidney transplant to overcome the effects of renal failure. [NB cystine storage continues elswhere, with resulting damage to the eyes and pancreas, and neurological deterioration] Carrier detection Measurement of leucocyte or fibroblast cystine concentration. Prenatal diagnosis Uptake of 35-S cystine by cultured fibroblasts.

35. 1Up Health > Health Links Directory > Conditions And Diseases: Rare Disorders: C Sites. cystinosis Patient UK Information for those living in the UnitedKingdom concerning this disease. Organizations, help and advice. http://www.1uphealth.com/links/rare-disorders-cystinosis.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Rare Disorders : Cystinosis Description See Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Urological Disorders Sites Cystinosis : Patient UK Information for those living in the United Kingdom concerning this disease. Organizations, help and advice. Cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. Cystinosis Foundation Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising. Cystinosis Research Network Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources. Readers Digest Health Cystinosis, its alternate names, a general discussion and resources.

36. 1Up Health > Health Links Directory >Conditions And Diseases:Rare Disorders:Cyst 1UpHealth Health Directory Conditions_and_Diseases Rare_Disorders cystinosiscystinosis is a rare genetic disease affecting both children and adults. http://www.1uphealth.com/links/desc-519.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Cystinosis Cystinosis is a rare genetic disease affecting both children and adults. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

37. Health Library - Cystinosis cystinosis. cystinosis is a rare inherited disorder characterized by theimpaired transport of cystine out of parts of cells called lysosomes. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

38. Que Es Cystinosis? Translate this page Qué es cystinosis? Es una enfermedad metabólica incurable páncreas,cerebro, etc. ¿Cuál es la causa de cystinosis? La causa http://www.geocities.com/cystinosisfoundationmexico/Quees.htm

var PUpage="76001073"; var PUprop="geocities"; Mar de China 44 #1 Altos. Col. Popotla Inglaterra Holanda Alemania EUA Existen tres formas de cystinosis: INFANTIL, JUVENIL Y ADULTA La Cystinosis infantil Cystinosis juvenil Cystinosis Adulta Cystagon cysteamina Por lo complejo de la enfermedad, el tratamiento es sumamente costoso. Nuestro deseo es ayudarte. Puedes encontrarnos en: CYSTINOSIS FOUNDATION-MEXICO Mar de China 44 int. 1 Altos Col Popotla C.P. 11400 Tel. 53-41-96-64 cystinosisfoundationmexico.cjb.net Cystinosisfoundationmex@hotmail.com PROXIMAMENTE TE DAREMOS A CONOCER LA CUENTA BANCARIA DONDE PUEDES DEPOSITAR TUS DONATIVOS. CYSTINOSIS FOUNDATION-USA. Ambas funcionan en pro de ay udar y proveer servicios a los pacientes con Cystinosis. CYSTINOSIS FOUNDATION 2516 Stockbridge drive Oakland, California, 94611 USA (001) 392-8458 WWW.CYSTINOSISFOUNDATION.ORG E-mail jd2hotz@qnis.net Ir a Inicio

39. Cystinosis Foundation México cystinosisFoundation México AC 19 de marzo de 2002. El pasado http://www.geocities.com/cystinosisfoundationmexico/noticias.htm

Mar de China 44 #1 Altos. Col. Popotla Inglaterra Holanda Alemania EUA Noticias Ir a Inicio "Cystinosis Foundation México"

40. Cystinosis Research Network Return to Search Page cystinosis Research Network. Email crn@cystinosis.org.Conditions cystinosis. Hours Answered 9am - 5pm Voicemail yes. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Cyst

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 91    Back | 1  | 2  | 3  | 4  | 5  | Next 20