1. CYSTINOSIS FOUNDATION HOMEPAGE cystinosis Foundation was founded in 1983 and is an all volunteer, nonprofit organization dedicated to providing services for those suffering from http://www.cystinosisfoundation.org/

UK France Australia Mexico 604 Vernon Street, Oakland, CA 94610 1-800-392-8458 501 (C) (3) Charitable Organization Ireland Netherlands Germany The Cystinosis Foundation and its community would like to express its deepest appreciation to ORPHAN EUROPE Working in close connection with the collaborative staff of Orphan Europe, the Cystinosis Foundation has been able to extend its mission internationally. Orphan Europe has provided excellent event planning assistance for our international conferences, has published abstracts for Cystinosis conferences. Orphan Europe has provided important material for our web site in a number of different languages and several significant publications have been printed in English for the international medical community. The Cystinosis Foundation would not have been able to conduct such an outreach effort without the outstanding contributions made by Orphan Europe. Is a wonderful book about a day in the life of Shawn Reuter, but of course it is a day in the life of all Cystinosis patients. Dan and Holly Reuter are making copies available for anyone that would like one or you can download a copy if you like.

2. Cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. http://medicine.ucsd.edu/cystinosis/INDEX.htm

This is the OFFICIAL source for information on Cystinosis. University of California, San Diego Department of Pediatrics , Division of Metabolic Disease Last Update: June 18, 2004 Effective 9/1/03, all test prices will increase. Please refer to the following link for updated pricing: NEW PRICE LIST General Information UCSD Cystine Determination Lab Laboratory Tests Body Surface Area For Physicians Dose Calculations Cystagon Updates Our Patients Cystinosis Foundation ... Other Links questions/comments: cystine@ucsd.edu NOTICE: Cystagon TM is supplied by CVS ProCare. For refills please contact (888) 700-0024.

3. 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. http://www.cystinosis.org

Cystinosis Research Network 10 Pine Avenue, Burlington, Massachusetts 01803 USA Toll Free: 1-866-276-3669 Tel: (781) 229-6182 Fax: (781) 229-6182 E-Mail: CRN@cystinosis.org The CRN Federal Tax ID # is 04-3323789 Home Home About CRN About Cystinosis News and Updates ... Site Map You can make a secure online credit card donation to the Cystinosis Research Network (CRN) through Network for Good. Click here for more information or just click the graphic above. VISION. MISSION The Cystinosis Research Network is a volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis. NOTE: Portions of our website are under construction. Please check back for updates. To access information from our old site, please click this link WHAT'S NEW: 2005 CRN Family and Medical Conference A huge success!

4. Cystinosis Central This is the OFFICIAL site for information on cystinosis. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Cystinosis Foundation Brochure cystinosis is a metabolic disease characterized by an abnormal accumulation Infantile and lateonset cystinosis differ in the age of appearance of the http://www.cystinosisfoundation.org/brochure2.html

F acts About Cystinosis (From the Brochure) WHAT IS CYSTINOSIS? Cystinosis is a metabolic disease characterized by an abnormal accumulation of the amino acid cystine in various organs of the body such as the kidney, eye, muscle, pancreas, and brain. Different organs are affected at different ages. IS IT INHERITED? The disease is inherited in an autosomal recessive fashion, meaning that each parent of a child with cystinosis carries one defective gene and one normal gene. The parents never have any signs of the disease. WHAT CAUSES CYSTINOSIS? The cystine content of cystinotic cells averages 50-100 times the normal value. The cause is a defect in the transport of cystine out of a cell compartment called the lysososme, in which cystine accumulates. Because of cystine's low solubility, this amino acid forms crystals within the lysosomes of cells, and this is probably what destroys the cells. WHAT ARE THE SYMPTOMS? If cystinosis patients receive a kidney transplant and reach adulthood, their new kidney will not be affected by the disease. However, without cysteamine treatment (see below), they can develop complications in other organs due to the continued accumulation of cystine throughout the body. These complications can include muscle wasting, difficulty swallowing, diabetes, heypthroidism, and blindness. Not all older patients develop these problems, however. CAN CYSTINOSIS BE TREATED?

6. Cystinosis Research Network You can make a secure online credit card donation to the cystinosis Research Network (CRN) through Network for Good. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. CYSTINOSIS FOUNDATION HOMEPAGE cystinosis Foundation was founded in 1983 and is an all volunteer, nonprofit organization dedicated to providing services for those suffering from http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Cysteamin Therapy CYSTEAMINE THERAPY IN POST TRANSPLANT cystinosis. Nephropathic cystinosis was long considered primarily a renal disease, but it s now recognized as systemic http://medicine.ucsd.edu/cystinosis/therapy.html

CYSTEAMINE THERAPY IN POST TRANSPLANT CYSTINOSIS Nephropathic cystinosis was long considered primarily a renal disease, but it's now recognized as systemic disorder which eventually effects many organ systems. A certain portion of post-transplant patients develop retinal blindness and corneal ulceration, muscle weakness and wasting, difficulty swallowing, diabetes due to destruction of the pancreas, infertility (in males) and, rarely, central nervous system deterioration. These problems generally occur in the second, third, or fourth decade in patients who never received cysteamine therapy. All of the patients over age 30 seen at the NIH have experienced a major, lifestyle-altering complication of the disease, and the evidence suggests that the complications are progressive in nature. The only possible countermeasure against this progression is to attack the cystine accumulation with cysteamine, or Cystagon . This drug, approved for use in humans in August 1994, reduces the cystine content of cultured cells by over 90%. When given orally to cystinosis patients, the white blood cell cystine concentration can be lowered to 5-10% of the untreated level, and this suggests that other cells, tissues, and organs are depleted of their cystine as well. In fact, there is substantial evidence that long-term oral cysteamine therapy depletes cystinosis patients' muscle of cystine, and the liver and kidney appear to benefit as well. Functionally, chronic oral cysteamine therapy has been shown, in three different studies, to retard deterioration of kidney function and to enhance the growth of cystinosis patients. In the most recent study, cysteamine therapy was demonstrated to increase renal function in the first three years of life. Long-term oral cysteamine therapy was also shown to prevent the need for thyroid hormone replacement in many cystinosis patients. Finally, topical cysteamine eyedrops dissolve corneal crystals and relive photophobia.

9. Cystinosin, The Protein Defective In Cystinosis, Is A H+-driven Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Cystinosis Foundation UK The cystinosis Foundation UK is a charity concerned with promoting awareness of cystinosis and supporting both families and medical research within http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Cystinosis Research Network cystinosis Information Brochure for Medical Professionals available in pdf Cystagon, new treatments, and research of cystinosis are giving hope for a http://www.cystinosis.org/aboutcystinosis.html

Cystinosis Research Network 10 Pine Avenue, Burlington, Massachusetts 01803 USA Toll Free: 1-866-276-3669 Tel: (781) 229-6182 Fax: (781) 229-6182 E-Mail: CRN@cystinosis.org The CRN Federal Tax ID # is 04-3323789 About Cystinosis Home About CRN About Cystinosis News and Updates ... Site Map You can make a secure online credit card donation to the Cystinosis Research Network (CRN) through Network for Good. Click here for more information or just click the graphic above. Cystinosis Information Brochure for Medical Professionals available in pdf format Cystinosis Article - New England Journal of Medicine - July 11, 2002 Cystinosis Central Cystinosis Chapter Emedicine.com ... Gene Clinics Cystinosis Profile Cystinosis is a rare disease that primarily affects children. Cystinosis is a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells. Without specific treatment, children with cystinosis develop end stage kidney failure at approximately age nine. Cystinosis also causes complications in other organs of the body. The complications include muscle wasting, difficulty swallowing, diabetes, and hypothyroidism. It is estimated that at least 2,000 individuals worldwide have cystinosis, thought exact numbers are difficult to obtain because the disease is often undiagnosed and/ or misdiagnosed.

12. Ocular Nonnephropathic Cystinosis Clinical, Biochemical, And Ocular Nonnephropathic cystinosis Clinical, Biochemical, and Molecular Correlations YAIR ANIKSTER , CYNTHIA LUCERO , JUANRU GUO http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. EMedicine - Cystinosis : Article By Ewa Elenberg, MD cystinosis Nephropathic cystinosis is an autosomal recessive lysosomal storage disease caused by defective transport of the amino acid cystine out of http://www.emedicine.com/ped/topic538.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Nephrology Cystinosis Last Updated: March 25, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: cystine storage disease, Fanconi syndrome, infantile cystinosis, infantile nephropathic cystinosis, adolescent cystinosis, adult cystinosis AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Ewa Elenberg, MD , Assistant Professor, Department of Pediatrics, Renal Section, Texas Children's Hospital, Baylor College of Medicine Ewa Elenberg, MD, is a member of the following medical societies: American Academy of Pediatrics American Medical Association , and American Society of Nephrology Editor(s): Uri S Alon, MD , Director of Research and Education, Children's Mercy Hospital of Kansas City; Professor, Department of Pediatrics, Division of Pediatric Nephrology, University of Missouri at Kansas City; Robert Konop, PharmD

14. Cystinosis Antibodies And Healthy Bodies Kleta And Gahl 13 cystinosis Antibodies and Healthy Bodies Robert Kleta and William A. Gahl http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Cystinosis Foundation UK The cystinosis Foundation UK is a charity concerned with promoting awareness of cystinosis and supporting both families and medical research within the http://www.cystinosis.org.uk/

Contact Us Donate Site Map Home ... Sponsored Cycle Ride The Cystinosis Foundation UK Supporting UK families and researchers to help cure this genetic disorder. Cystinosis is a rare inherited disease occurring in about 1 in 200,000 births within developed countries. It occurs when the mechanism removing excess cystine (an amino acid) breaks down. In the past, it was rare for Cystinotics to survive into adulthood. However, with better understanding and earlier diagnosis, it is possible for sufferers to lead a longer, fuller life. It is the Foundation's aim to aid researchers and sufferers to achieve this. Help Us Raise £100,000 for UK Research. Learn more about Cystinosis Contribute to this site Join Us Solve Cystinosis Wristband Show your support for Cystinosis by purchasing a Cystinosis wristband. Charity No.1074885 Please refer to our Home Make A Donation Submit news Contact Us

16. A Multicentre Randomised Double Masked Clinical Trial Of A New cysteamine for the treatment of corneal cystine crystals in cystinosis Keywords cysteamine; cystinosis; corneal crystals http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Cystinosis,Cystine Storage Disease,Fanconi II,Lignac-Fanconi cystinosis,Cystine Storage Disease,Fanconi II,LignacFanconi Syndrome,Infantile cystinosis,Juvenile cystinosis,Nephropathic cystinosis http://www.icomm.ca/geneinfo/cystinosis.htm

18. Cystinosis Foundation Ireland Homepage Official report photographs on the Launch of cystinosis Foundation Ireland Click on the links cystinosis Foundation Family Support. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

20. Cystinosis From Gene To Disease Kalatzis And Antignac 17 (11) Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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