61. About Cystinosis - Cystinosis.biz ,cystinosis Family Support Network (CFSN) has been setup to support families and friends of children and young adults diagnosed with the cystinosis. http://www.portal.cystinosis.biz/index.php?option=com_content&task=view&id=45&It

62. Health/Conditions And Diseases/Rare Disorders/Cystinosis -- The Doctors Lounge(T Ask the doctor. Get free medical consultation and advice. Choose a medical specialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Rare_Disorder

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. url: medicine.ucsd.edu/cystinosis/INDEX.htm 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. url: www.cystinosisfoundation.org 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. url: www.cystinosis.org mozilla.org url: www.mozilla.org/

63. Arch Neurol -- Abstract: Neurologic Complications In Long-standing Nephropathic Ocular Nonnephropathic cystinosis Clinical, Biochemical, and Molecular The Genomic Region Encompassing the Nephropathic cystinosis Gene (CTNS) http://archneur.ama-assn.org/cgi/content/abstract/46/5/543

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 46 No. 5, May 1989 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Fink JK Gahl WA Articles that cite this article Contact me when this article is cited Neurologic complications in long-standing nephropathic cystinosis J. K. Fink, P. Brouwers, N. Barton, M. H. Malekzadeh, S. Sato, S. Hill, W. E. Cohen, B. Fivush and W. A. Gahl National Institute of Neurologic and Communicative Disorders and Stroke Bethesda, Md 20892. The central nervous system has been considered to be uninvolved in nephropathic cystinosis. Survival into adulthood, following renal dialysis and transplantation, has brought attention to the sequelae of long-standing

64. Open House cystinosis is a genetic disease affecting almost all of the organs and muscles of Without treatment, children with cystinosis develop endstage kidney http://www.rte.ie/tv/openhouse/2003/1103/Cystin.html

Sites A-Z News Sport Business ... Contact the Show Cystinosis Introduction Another rare genetic disease has recently come to light and effects just one thousand people worldwide. Here in Ireland, cystinosis affects just nine people. Six of these are children and Luke Hennelly is one of them. He joins us today with his Mum and Dad, Ann Marie and Des. Backround Luke Hennelly, who will be three on the eighteenth of November, suffers with the rare genetic disease, Cystinosis. When Luke was six months old he became suddenly ill. He was very lethargic, getting sick and he developed a rash. His parents thought it was as a result of a food allergy. They brought the toddler to Our Lady’s Hospital in Crumlin. There, it transpired he was the victim of a rare genetic disease, cystinosis. Luke’s kidneys were loosing essential electrolytes and he had rickets (a brittle bone disease). He was immediately put on an intravenous drip for dehydration and loss of nutrients. For the next year-and-a-half, he was hospitalised several times and his growth slowed as a result. Treatment was severe and caused dreadful vomiting. He reached some of his milestones late, but now, at almost three, he’s catching up. Cystinosis Cystinosis is a genetic disease affecting almost all of the organs and muscles of the body. Symptoms include failure to thrive, excess urination, excess thirst, severe dehydration, rickets and if left untreated, death at a very young age.

65. Builder & Developer Magazine - JUNE 2005 JUNE 2005 — BUILDERS GIVE BACK cystinosis FOUNDATION cystinosis — it’s probably not a disease that you have ever heard of, and with good reason since http://www.bdmag.com/issues/june_2005/d15.htm

Granite Homes Centex Downtown D.R. Horton Dividend Homes ... Legal Notes - Real Estate Settlement Procedures Act Prolific Builder Rallies Industry Support to Raise Research Funds The Stack family asks builders to help the medical community find a cure for daughter Natalie's rare and debilitating disease. By Kim Singletary While beneficial, however, Cystagon is far from a cure for the thousands of mostly children who suffer from the disease. For one, the drug must be administered every six hours in order to be effective, and for the Stacks, this means Natalie must be awakened twice a night every night of her life. And then there are the side effects, which for the spunky, blond 14-year-old include constant thirst and severe gastrointestinal problems. Natalie also suffers from crystals that have built up in her eyes, as well as kidney disease, a mild form of rickets and poor muscle tone. For more information on this foundation and how you can help, visit www.natalieswish.org Kim Singletary is the editor-at-large for Builder and Developer magazine. She may be reached via e-mail at kim@bdmag.com

66. Cystinosis cystinosis is an inherited metabolic disorder first recognized in the 1930’s by In children who inherit two mutant cystinosis genes from their parents, http://www.pedneph.mcgill.ca/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

67. Arborwood Forums - Cystinosis Foundation Family Support - New Mum To A Nephropat Arborwood Forums Remotely hosted public and private message boards for websites, groups, and businesses of any size. Features fast and reliable, http://www.arborwood.com/awforums/show-topic-1.php?start=1&fid=8072&taid=1&topid

68. Arborwood Forums - Cystinosis Foundation Family Support - Recently Daignosed Wit Arborwood Forums Remotely hosted public and private message boards for websites, groups, and businesses of any size. Features fast and reliable, http://www.arborwood.com/awforums/show-topic-1.php?start=1&fid=8072&taid=1&topid

69. Penn State Faculty Research Expertise Database (FRED) , Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in......cystinosis. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D003554

70. Cystinosis Foundation Ireland Homepage http://ireland.cystinosis.com/

71. Dorlands Medical Dictionary benign cystinosis, a type of cystinosis that does not affect kidneys or late onset juvenile cystinosis, a type that falls between the early onset type http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

72. Infantile Cystinosis A 10year-old boy with a diagnosis of infantile cystinosis and progressive cystinosis is an inherited, autosomal recessive disorder of lysosomal storage http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216

73. Cystinosis México cystinosis Research Network Medical and Family Conference Nuestro Pesame al Dr. Chamoles http://www.cystinosismexico.org/

¿Que es Cystinosis? Panel Medico Investigacion Conferencias y Eventos ... Cystinosis Mexico - English Section Welcome: CYSTINOSIS MEXICO Centro de Informacion Para LatinoAmerica Information Center to Latinamerica. cistinosis es una enfermedad poco conocida en Mexico, nuestra labor es orientar a medicos y pacientes que sufren este padecimiento , ademas de organizar congresos y simposios medicos para concientizar a la comunidad y publico general sobre esta enfermedad cistinosis. Welcome to Cystinosis Mexico , Cystinosis is a metabolic disease unknown around Mexico. Our goal is to give support and information about this disease , Organize medical conferences , simposiums and awarness to medical community and people in general . BIENVENIDOS El pasado 1 y 2 de Julio de 2005 se celebro la conferencia de Cystinosis Foundation USA en la universidad de San Diego Cal. resumen completo y mas fotos pronto. Cystinosis Foundation Conference July 1, 2 2005 , complete summary soon , Ahora pueden checar los primeros comentarios de la Confernecia de CRN 2005 (En el Boton Eventos y Conferencias) Check Out Brief Comments About CRN Conference 2005 ( Events and Conferences Section) Powered by integraLogics Cystinosis México

74. Cystinosis México Translate this page cystinosis Research Network Medical and Family Conference El primer Simposio de cystinosis en México se llevo a cabo el 10 de Enero de 2003 , en el http://www.cystinosismexico.org/article.jsp?Cat=744&Scat=0&ID=791

75. Severity Of Phenotype In Cystinosis Varies With Mutations In The CTNS Gene: Pred Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused Lateonset cystinosis, a rarer form of the disorder, is characterized by http://hmg.oxfordjournals.org/cgi/content/abstract/8/13/2507

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (28) Request Permissions PubMed PubMed Citation Articles by Attard, M. Articles by Town, M. ARTICLES Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin M Attard, G Jean, L Forestier, S Cherqui, W van't Hoff, M Broyer, C Antignac and M Town Nephrourology Unit, Institute of Child Health, University College London Medical School, 30 Guilford Street, London WC1N 1EH, UK, Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and characterized by early onset of renal proximal tubular dysfunction. Late-onset cystinosis, a rarer form of the disorder, is

76. Cystinosis Articles, Support Groups, And Resources cystinosis articles, support groups, and resources for patients from Med Help International (www.medhelp.org) 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 International Search ... Site Map Revised: 9/7/2005

77. Cystinosis cystinosis. cystinosis cystinosis cystinosis Cystine crystal deposits Digital Reference of Ophthalmology - Edward S Harkness Eye Institute, http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=722

78. What Is Cystinosis? cystinosis Information Brochure for Medical Professionals available in pdf format cystinosis Article New England Journal of Medicine - July 11, 2002 http://archive.cystinosis.org/what_is_cystinosis.htm

Resources of Cystinosis Information 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. Cystagon, new treatments, and research of Cystinosis are giving hope for a bright future for children and adults with Cystinosis.

79. Cystinosis Registry Registering with the cystinosis Research Network is free and entitles you to all of reason for registering and any questions to register@cystinosis.org http://archive.cystinosis.org/register_here.htm

Registering with the Cystinosis Research Network is free and entitles you to all of our publications and announcements, referrals and networking with other individuals and families affected by Cystinosis. Either click here to use our registration form or send your name, address, telephone number, reason for registering and any questions to register@cystinosis.org Cystinosis Research Network 8 Sylvester Rd. Burlington, Massachusetts 01803 USA Toll Free: 1-866-276-3669 Tel:(781) 229-6182 Fax: (781)229-6030 E-mail: crn@cystinosis.org Home

80. What Is It? cystinosis is a Metabolic disease characterized by an abnormal Infantile cystinosis is usually diagnosed between 6 and 18 months of age with symptoms of http://australia.cystinosis.com/what_is_it.htm

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 Kidney, Eye, Muscle, Pancreas, and Brain. Different organs are affected at different ages. Is It Inherited? The disease is inherited in a 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 lysosome, 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 adult hood, then their new kidney will not be effected by the disease. However, without Cysteamine treatment 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, hypothyroidism, and blindness. Not all older patients develop these problems, however. Can Cystinosis be treated?

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