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         Cystinosis:     more detail
  1. Cystinosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  2. Cystinosis: Webster's Timeline History, 1951 - 2007 by Icon Group International, 2010-05-28
  3. Cystinosis
  4. Cystinosis (DHEW publication no) by Joseph D Schulman, 1973
  5. Cystinosis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Genevieve, PhD Slomski, 2005
  6. A Parent's guide to cystinosis (NIH publication) by Stephen P Spielberg, 1981
  7. Fanconi's Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Lorraine, PhD Lica, 2006
  8. Gale Encyclopedia of Medicine: Fanconi's syndrome by Lorraine Lica PhD, 2002-01-01
  9. Celebration by Margaret Spufford, 1996-04

41. Cystinosis Foundation, Inc.
Return to Search Page cystinosis Foundation, Inc. 2516 Stockbridge Drive Oakland,CA 94611 Conditions cystinosis. Hours Answered 24 hours Voicemail yes.
http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Cyst

42. Cystinosis
cystinosis. The patients. A later onset form with milder renal disease alsooccurs, referred to as intermediate or adolescent cystinosis.
http://www.sas-centre.org/genetic/genpages/lysstodiscystinosis.html
Cystinosis The disease is noticed at about 6 months of age with symptoms of renal tubular dysfunction presenting as the Fanconi syndrome. Renal loss of phosphate leads to hypophosphataemia and rickets. Later there is glomerular damage. In the eye corneal deposits are seen due to the presence of crystalline cystine, and photophobia occurs in most patients. A later onset form with milder renal disease also occurs, referred to as "intermediate" or "adolescent" cystinosis. Enzyme Tests: The disease may be diagnosed by measurement of

43. Florida State University College Of Medicine Digital Library
cystinosis Clinical Resources. GeneClinics Homepage cystinosis Access document.CliniWeb Homepage (includes links to targeted PubMed MEDLINE searches)
http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/membran
Clinical Resources by Topic: Metabolic Disorders
Cystinosis Clinical Resources
Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also:

44. Florida State University College Of Medicine Digital Library
cystinosis Patient/Family Resources. Miscellaneous. Miscellaneous cystinosisPatient/Family Resources Healthfinder (US DHHS) Homepage
http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/memb
Patient/Family Resources by Topic: Metabolic Disorders
Cystinosis Patient/Family Resources
Miscellaneous See also:

45. Cystinosis Foundation Mexico
cystinosis Foundation México .
http://www.cystinosisfoundationmexico.cjb.net/
Click here to continue. Cystinosis Foundation Mexico La fundacion de cystinosis en mexico... cystinosis medicina salud fundacion mexico

46. Rd.com:
cystinosis, its alternate names, a general discussion and resources.
http://www.rd.com/common/nav/index.jhtml?articleId=8612575

47. CCHS Clinical Digital Library
cystinosis Clinical Resources. GeneClinics Homepage cystinosis Access document.CliniWeb Homepage (includes links to targeted PubMed MEDLINE searches)
http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/membranet
Clinical Resources by Topic: Metabolic Disorders
Cystinosis Clinical Resources
Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also:

48. Cystinosis In A Five Years Old Boy
cystinosis in a five years old boy. ABSTARCT. Introduction cystinosis ofcystinosis. Key words cystinosis, Fanconi syndrome, renal failure.
http://www.imbiomed.com.mx/Bolhifa/Bhv59n04/english/Zbh024-04.html
Article in Spanish
Carbajal-Rodríguez L, Belmont-Martínez L, Vela-Amieva M, Rodríguez-Herrera R, Reynés-Manzur JN, Barrios-Fuentes R, et al
Cistinosis
Bol Med Hosp Infan Mex
Cystinosis in a five years old boy
ABSTARCT Introduction: Cystinosis is an infrequent (1:200 000 326440) autosomal recessive inborn error of metabolism which produces irreversible kidney damage. Case report: A 5 years old boy presented with a history of glucosury, aminoacidury, phosphatury, proteinury, short stature, and hypophosphathetmyc raquitism diagnosed as Fanconi syndrome at 18 months of age; 3 years after he presented renal dysfunction characterized by seric creatinine increment, intense aminoacidury, and cystine corneal deposits; a diagnosis of cystinosis was done. He was treated with cysteamine and cystin corneal deposits decreased notably 4 months after. Conclusion: We present a representative case of cystinosis, and we also review its association with Fanconi syndrome and other disorders as well as the management of cystinosis. Key words: Cystinosis, Fanconi syndrome, renal failure.

49. Cystinosis : Meddie Health Search
ITEMS LINKS cystinosis Patient UK Information for those living in theUnited Kingdom concerning this disease. Organizations, help and advice.
http://www.meddie.com/search/Health/Conditions_and_Diseases/Rare_Disorders/Cysti
HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED
Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Rare Disorders : Cystinosis ITEMS: LINKS:
  • Cystinosis : Patient UK
    Information for those living in the United Kingdom concerning this disease. Organizations, help and advice.
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  • Cystinosis Central
    Information about this disorder, conferences, data for physicians, updates and links.
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  • 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.
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  • Readers Digest Health
    Cystinosis, its alternate names, a general discussion and resources.
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50. Cystinosis Foundation
28th – 30th June 2002. cystinosis Foundation International Conference Paris.tel 0118 948 4754. www.climb.org.uk tel 0870 7700 326. cystinosis Foundation.
http://www.cystinosis.demon.co.uk/newsletter/spring 2002 newsletter.htm
Diary Dates 11th May 2002 CLIMB one day educational event, Newbury, Berkshire www.climb.org.uk tel : June 2002 Cystinosis Foundation International Conference Paris tel : 7th-8th September 2002 tel : September 2002 CLIMB National Conference, Newcastle –Upon-Tyne Airport www.climb.org.uk tel : 0870 7700 326 Cystinosis Foundation
UK and Eire
What do You Want? I would like to firstly take this opportunity to thank Satinder Seehra for taking on this difficult task of volunteering to take on the role of ‘Newsletter Editor’, as well as acting as support for my new ‘Fund-raising Officer’, Paul Beckwith. Both are already looking after several children of their own, but due to their having similarities in their lives, have become friends through the Foundation, as many of us have. I was asked by Satinder to write an article for the next edition. She was getting tough with me already; I was given a deadline by which to have it written and out to her by! The subject I need to raise is about ‘Conferences’ and is not easy to put across so please bear with me. Many of the organisations I have had contact with are coming to the same conclusions through their own experiences. It is getting harder by the year to find ‘new’ subjects to cover when running a charity for a rare disorder. Researchers can only make so much progress in that period, rarely enough for us to ask them to travel the distance they do to talk for a short period on their specialist field.

51. What Is Cystinosis?
CLIMB (Research Trust for Metabolic Diseases in Children). RenalUK . What'sHappening at the Foundation In USA. cystinosis Research Network. . .
http://www.cystinosis.demon.co.uk/links.htm

CLIMB
(Research Trust for Metabolic Diseases in Children) RenalUK
What's Happening at the Foundation In USA
...
Cystinosis Research Network

should not be construed as advising on diagnosis or treatment of any condition.

52. ORPHANET® : Cystinosis
Translate this page ORPHANET. ORPHANET database access. cystinosis. Directaccess to details Alias Cystin transport. Home Page.
http://www.orpha.net/static/GB/cystinosis.html
ORPHANET database access
Cystinosis
Direct access to details
Alias :
Home Page

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

54. Health Library - Cystinosis
cystinosis. Self Help Clearinghouse. cystinosis Foundation. National network.Allvolunteer,non-profit organization dedicated
http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29cys

55. WebGuest - Open Directory : Health : Conditions And Diseases : Rare Disorders :
Sites cystinosis Central Information about this disorder, conferences,data for physicians, updates and links. cystinosis Foundation
http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Rare_Diso
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the entire directory only in Rare_Disorders/Cystinosis Top Health Conditions and Diseases Rare Disorders : Cystinosis

See also:
Sites:
  • 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.
Last update: 9:22 PT, Thursday, January 30, 2003
Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

56. BENCHMARK Analysis Of Nephropathic Cystinosis
BENCHMARK analysis of nephropathic cystinosis, G2D Home. GO TO The numberindicates the strength of association to nephropathic cystinosis.
http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?013

57. MeSH-D Terms Associated To MeSH-C Term Cystinosis
MeSHD terms associated to MeSH-C term cystinosis, G2D Home. The number indicatesthe strength of the association of the corresponding term to cystinosis.
http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Cystinosis:benchmark

58. Nature Publishing Group
Molecular Analysis of cystinosis Probable Irish Origin of the Most Common FrenchCanadian Mutation. cystinosis; CTNS; French Canadian; mutation; founder.
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v7/n6/abs/5200349a

59. Searchalot Directory For Cystinosis
Related Web Sites. cystinosis Central Information about this disorder,conferences, data for physicians, updates and links. cystinosis
http://www.searchalot.com/Top/Health/ConditionsandDiseases/RareDisorders/Cystino
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  • Cystinosis Central - Information about this disorder, conferences, data for physicians, updates and links.
  • 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.
  • Cystinosis : Patient UK - Information for those living in the United Kingdom concerning this disease. Organizations, help and advice.
  • 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.

60. NORD - National Organization For Rare Disorders, Inc.
cystinosis. To purchase fulltext report ($7.50) Copyright 1986, 1987, 1988,1990, 1991, 1993, 1994, 1995, 1997, 1998, 1999 Synonyms of cystinosis
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cystinosis

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