1. CYSTINOSIS FOUNDATION HOMEPAGE Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about Category Health Conditions and Diseases Rare Disorders cystinosis...... Click Here Now! The New England Journal of Medicine has published an outstandingarticle on cystinosis. Questions comments to Frank@cystinosis.com. http://www.cystinosisfoundation.org/

Mexico Australia 604 Vernon Street, Oakland, CA 94610 1-800-392-8458 501 (C) (3) Charitable Organization Netherlands German Minnesota, they were on quite a roll in February 2003, they held THREE fundraisers around their hometown. They held their 10th Annual "Sweethearts Balloon Rally", as well as an Auction at the Westwood Restaurant on Lake Washington, and Holly Reuter and the Maple River School staff took a "PIE IN THE FACE" for donations from the kids. All the while, Dan was turning 40 years old (Happy Birthday Dan), and their son David went into the hospital to have his appendix removed. You can read all about the fund raisers and see pictures by clicking right HERE Visit their website Stardrifter for more Info and Pictures of the Fund Raisers. Medical Alert sent by Dr. William Gahl, MD, PHD, National Institues of Health regarding a Medical Complication in Cystinosis Patients, called pseudotumor cerebri or PTC. Read the letter from Dr. Gahl.

2. Cystinosis Research Network Meet kids with cystinosis, a rare autosomal recessive disease affecting only about 400 individuals in the United States, and read research news. Vision. The cystinosis Research Networks (CRN) vision is the discovery of improved treatments and ultimately a cure http://www.cystinosis.org/

Vision. The Cystinosis Research Network’s (CRN) vision is the discovery of improved treatments and ultimately a cure for cystinosis. 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. What Is Cystinosis? Support Group Cystinosis Database Fundraising ... Spring 2003 Newsletter Available Online Click Here Magic, Medicine and Miracles CRN Scientific Symposium and Family Conference July 24 and July 25 - 26, 2003 in Walt Disney World, Swan Hotel, Florida Click here for more conference information Updated: Tuesday, March 25, 2003

3. Health Information At Your Fingertips - Patient.co.uk A directory of UK health, disease, illness and related medical websites that provide patient information. UK sources of information and / or support. cystinosis Foundation UK Eire http://www.patient.co.uk/illness/c/cystinosis.htm

Home Information Leaflets Self Help Web directory ... Your Surgery Find information about Consult a GP Medical Insurance Related: Self-help groups Glossaries Printer-friendly version 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 UK and Eire Top of Page Feedback Add link ... Download search box

4. Welcome To The Cystinosis Foundation UK! association for kidney children and patients with cystinosis presents Life time achievement award to Jean HobbsHotz(founder http://www.cystinosis.org.uk/

5. Pediatric Database Last Updated 1/24/95. cystinosis. DEFINITION A disorder of cystine metabolism characterized by the accummulation of http://www.icondata.com/health/pedbase/files/CYSTINOS.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 1/24/95 CYSTINOSIS DEFINITION: A disorder of cystine metabolism characterized by the accummulation of cystine resulting in renal (Fanconi Syndrome) and ocular manifestations. EPIDEMIOLOGY: incidence: 2.5/100,000 age of onset: infantile form (6-18 months of age) late-onset form (18 months to 17 years of age) risk factors: familial - autosomal recessive chrom.#: 17p gene: ? PATHOGENESIS: 1. Background tubulointerstitial (metabolic toxins) renal disease 2. Genetic Defect CLINICAL FEATURES: 1. Renal Manifestations onset - infantile (6-18 mo.), late-onset (18 months-17 years) 1. Fanconi Syndrome episodes of vomiting, dehydration, weakness, and unexplained fever anorexia, constipation polydipsia and polyuria failure to thrive and growth failure rickets 2. Cystinosis 2. Ocular Manifestations refractile polychromatic crystals deposited in the conjunctiva, cornea, sclera, and choroid retina peripheral retinopathy (beginning at 5 weeks of age) hypopigmented fundi with fine to course spotty pigmentation photophobia INVESTIGATIONS: 1. Serum

6. Cystinosis Central Dept.'s Division of Metabolic Disease gathers these resources on cystinosis. Includes general info, updates and news on cysteamine (Cystagon). This is the OFFICIAL source for information on cystinosis. http://medicine.ucsd.edu/cystinosis

This is the OFFICIAL source for information on Cystinosis. University of California, San Diego Department of Pediatrics , Division of Metabolic Disease Last Update: February 5, 2003 Conferences General Info. Updates Body Surface Area For Physicians Dose Calculations Laboratory Tests UCSD Cystine Determination Lab Cystagon Cystinosis Foundation Other Links Our Patients questions/comments: cystine@ucsd.edu NOTICE: Cystagon TM is no longer supplied by Chronimed. Please contact CVS ProCare at (888) 700-0024 for refills.

7. Cystinosis Foundation Brochure Facts About cystinosis. (From the Brochure). WHAT IS cystinosis?cystinosis is a metabolic disease characterized by an abnormal 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?

8. Cystinosis Central Information about this disorder, conferences, data for physicians, updates and links.Category Health Conditions and Diseases Rare Disorders cystinosis......This is the OFFICIAL source for information on cystinosis. University of California,San Diego, Department of Pediatrics, Division of Metabolic Disease. 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: February 5, 2003 Conferences General Info. Updates Body Surface Area For Physicians Dose Calculations Laboratory Tests UCSD Cystine Determination Lab Cystagon Cystinosis Foundation Other Links Our Patients questions/comments: cystine@ucsd.edu NOTICE: Cystagon TM is no longer supplied by Chronimed. Please contact CVS ProCare at (888) 700-0024 for refills.

9. Genetics Of Cystinosis GENETICS OF cystinosis. C = normal gene / noncystinosis gene c =recessive gene /cystinosis gene. Cc = carrier / heterozygote / no http://medicine.ucsd.edu/cystinosis/genetics.html

GENETICS OF CYSTINOSIS C = normal gene / non-cystinosis gene c = recessive gene /cystinosis gene C c = carrier / heterozygote / no cystinosis C C = non carrier / no cystinosis c c = cystinosis If two people who are carriers for the cystinosis gene have a child there is a : 1 in 4 chance the child will have cystinosis ( cc 2 in 4 chance the child will not have cystinosis, but will be a carrier ( C c 1 in 4 chance the child will not have cystinosis or be a carrier ( CC Cystinosis Central General Info.

10. Cystinosis Related Search Search for books about cystinosis. cystinosis. Begin your search for. cystinosis. Search for other books http://www.book-summary.com/cystinosis.html

Cystinosis Begin your search for Cystinosis Cystinosis search Top Books Search for other books All Products Books Popular Music Classical Music Video DVD Bad Back : Coping for Life More... Vascular Brachytherapy More... Hardcover More... Lumbar Spinal Stenosis More... Save Your Aching Back, A Patient's Guide More... Lumbar spondylosis : diagnosis, management, and surgical treatment More... privacy Free Site Templates About Cystinosis Touching the derivation of the name Cystinosis, I confess myself, with sorrow, equally at fault. Among a multitude of opinions upon this delicate point- some acute, some learned, some sufficiently the reverse I am able to select nothing which ought to be considered satisfactory. Modified text originally written by Edgar Allan Poe.

11. What Is Cystinosis? Resources of cystinosis Information cystinosis is a rare disease that primarily affectschildren. Cysteamine also improves growth of children with cystinosis. http://www.cystinosis.org/what_is_cystinosis.htm

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

12. Katalog - Wirtualna Polska Poczta Czat SMS Pomoc Szukaj.wp.pl Katalog -Polskie www -wiatowe www -Wirtualna Polska -Katalog wiatowy -FTP/Pliki -Grupy dyskusyjne R E K L A M A R E K L A M A wp.pl Katalog Katalog wiatowy Health Conditions and Diseases http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Rare_Disorders/Cystinos

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Rare Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

13. What Is Cystinosis? If you would like to become a member of the cystinosis Foundation UK and Eire,please click HERE to go to our membership form page, which you can print from http://www.cystinosis.org.uk/join.htm

If you would like to become a member of the Cystinosis Foundation - UK and Eire, please click HERE to go to our membership form page, which you can print from your browser. If you would then like to contact me, Jonathan Terry , I will tell you where to send the form. Alternately, you can click HERE to download the form in Microsoft Word document form (zipped). If you have any questions or comments concerning the Cystinosis Foundation - UK and Eire or Cystinosis, please feel free to contact me, Jonathan Terry and I will be pleased to answer your questions. Any questions or comments concerning the design of this web site should be addressed to kym@cabra.demon.co.uk, Who will be pleased to help. should not be construed as advising on diagnosis or treatment of any condition.

14. Cystinosis Foundation Brochure WHAT IS cystinosis? cystinosis is a metabolic disease characterized by an abnormal accumulation of the amino acid http://www.cystinosis.com/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?

15. Cystinosis cystinosis. cystinosis is a rare genetic disease affecting both children and adults.it is usually diagnosed in early infancy. Types of cystinosis. Nephropathic http://www.kidneyindia.com/cystinosis.htm

16. Cystinosis From Pediatrics / Nephrology cystinosis Nephropathic cystinosis is an autosomal recessive lysosomal storagedisease caused by defective transport of the amino acid cystine out of http://author.emedicine.com/PED/topic538.htm

eMedicine Journal Pediatrics Nephrology Cystinosis Synonyms, Key Words, and Related Terms: cystine storage disease, Fanconi syndrome, infantile cystinosis, infantile nephropathic cystinosis, adolescent cystinosis, adult cystinosis Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 12 Authored by 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 Edited by Uri S Alon, MD , Director of Research and Education, Children's Mercy Hospital of Kansas City, MO; Professor, Department of Pediatrics, Division of Pediatric Nephrology, University of Missouri at Kansas City; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Adrian Spitzer, MD , Professor, Department of Pediatrics, Albert Einstein College of Medicine; Director of NIH Training Program, Children's Hospital at Montefiore Medical Center;

17. Cystinosis cystinosis Home Up Phenylketonuria Galactosemia cystinosis Gaucher's Disease Urea Cycle Disorders Glycogen Storage Disorders http://www.csmd.ca/cystinosis.htm

Cystinosis Home Up Phenylketonuria Galactosemia [ Cystinosis ] Gaucher's Disease Urea Cycle Disorders Glycogen Storage Disorders Fatty Oxidation Disorder ... Hereditary Tyrosinemia This page is currently under construction. Return to " How many are there? "

18. GeneReviews: Cystinosis Your browser does not support HTML frames so you must view cystinosisin a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/query?dz=ctns

19. Cystinosis Support Page cystinosis. cystinosis Foundation 17 Lake Ave Piedmont,CA 94611 Phone (510) 6016940 Online information cystinosis http://www.kumc.edu/gec/support/cystinos.html

Cystinosis Cystinosis Foundation 17 Lake Ave Piedmont, CA 94611 Phone: (510) 601-6940 Online information: Cystinosis Central , University of California, San Diego, Department of Pediatrics, Division of Metabolic Disease Also See: National organizations with information on genetic conditions or birth defects - variety of resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

20. 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

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