81. Health Library - 12.42.224.150/library/healthguide/enus/SelfHelp/t cystinosis Patient/Family Resourcescystinosis Foundation Homepage. cystinosis Foundation Brochure English French Italian German. Miscellaneous cystinosis Patient/Family Resources http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

82. Cystinosis - Wikipedia, The Free Encyclopedia cystinosis in a five years old boyIntroduction cystinosis is an infrequent (1200 000326440) autosomal recessive Conclusion We present a representative case of cystinosis, and we also http://en.wikipedia.org/wiki/Cystinosis

Wikimedia needs your help in the final day of its fund drive. See our fundraising page Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Cystinosis From Wikipedia, the free encyclopedia. Cystinosis is a hereditary dysfunction of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine , excessive urination, and low blood levels of potassium ions and phosphates . It is caused by abnormal metabolism of the amino acid cystine and the accumulation of cystine crystals in tissues. It is caused by a recessive genetic trait which is required from both parents. Symptoms include Fanconi's syndrome photophobia stunted growth and rickets . It is currently being researched at the National Institutes of Health in Bethesda, Maryland This medical article is a stub . You can help Wikipedia by expanding it Retrieved from " http://en.wikipedia.org/wiki/Cystinosis Categories Medicine stubs Views Article Discussion Edit this page History Personal tools Create account / log in Navigation Main Page Community portal Current events Recent changes ... Donations Search Toolbox What links here Related changes Upload file Special pages ... Permanent link This page was last modified 07:26, 18 August 2005.

83. Vindex - Zoekresultaten Voor cystinosis Central. Information about this disorder, conferences, cystinosis Research Network. Information about the organization and their mission. http://www.vindex.nl/dmoz.jspx?topic_id=Top/Health/Conditions_and_Diseases/Rare_

84. AnyWho: Internet Directory Assistance; Yellow Pages, White Pages, Toll-Free Numb Pulmonary Dysfunction in Adults With Nephropathic cystinosis Patients Twelve adult, nephropathic cystinosis patients and 3 adult, ocular, Having encountered pulmonary dysfunction in our adult cystinosis patients http://www.anywho.com/cgi-bin/webdrill?catkey=gwd/Top/Health/Conditions_and_Dise

85. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cystinosis PituitaryTesticular Function in Nephropathic cystinosis Chik No patient with cystinosis reached Tanner stage 5 (full pubertal development), Seven of 10 patients with cystinosis had elevations in LH or http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cystinosis

86. Pituitary-Testicular Function In Nephropathic Cystinosis -- Chik Et Al. 119 (7): Objective To evaluate reproductive function in patients with cystinosis and in renal No patient with cystinosis reached Tanner stage 5 (full pubertal http://www.annals.org/cgi/content/abstract/119/7_Part_1/568

Search Annals: Advanced search Home Current Issue Past Issues ... ACP Online Article Table of Contents Full Text of this article Figures/Tables List Services Send comment/rapid response letter Notify a friend about this article Alert me when this article is cited Add to Personal Archive ... ACP Search PubMed Articles in PubMed by Author: Chik, C. L. Gahl, W. A. Related Articles in PubMed PubMed Citation ... PubMed ARTICLE Pituitary-Testicular Function in Nephropathic Cystinosis Constance L. Chik Aaron Friedman George R. Merriam ; and ... William A. Gahl Objective: To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis. Design: Cross-sectional study. Setting: Clinical Center, National Institutes of Health. Patients: Ten male patients, 15 to 28 years old, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal disorder other than cystinosis and were matched with study patients for age and renal function served as the control group. Measurements: Tanner staging, serum gonadotropin determinations

87. Arch Ophthalmol -- Abstract: Glare Disability In Nephropathic Cystinosis, Decemb Ten of the 12 patients with cystinosis had demonstrable glare disability Glare disability scores in the patients with cystinosis ranged from 5% to 50%. http://archopht.ama-assn.org/cgi/content/abstract/105/12/1670

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. 105 No. 12, December 1987 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 Katz B Schneider JA Contact me when this article is cited Glare disability in nephropathic cystinosis B. Katz, R. B. Melles and J. A. Schneider Department of Ophthalmology, University of California San Diego, La Jolla. Cystinosis is a rare metabolic disorder in which nonprotein cystine accumulates within lysosomes due to a defect in lysosomal cystine transport. Although cystine accumulates within most ocular tissues, patients with cystinosis generally complain only of photophobia and glare. We measured glare sensitivity in 12 patients with infantile cystinosis and compared their results with an age-matched control population. Ten of the

88. Arch Ophthalmol -- Abstract: Ocular Manifestations Of Nephropathic Cystinosis. T French Canada has the highest incidence of cystinosis in the world. We studied 18 patients with cystinosis who appeared to have much milder ocular http://archopht.ama-assn.org/cgi/content/abstract/109/3/359

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. 109 No. 3, March 1991 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 Richler M O'Regan S Articles that cite this article Contact me when this article is cited Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population M. Richler, J. Milot, M. Quigley and S. O'Regan Department of Ophthalmology, Hopital Saint-Justine, Montreal, Quebec, Canada. A large spectrum of ocular pathologic features have been described in infantile cystinosis. Reported symptoms may require corneal transplantation and therapeutic efforts to solubilize cystine crystals with hourly administration of cysteamine (mercaptamine) drops. French Canada has the

89. Cystinosin, The Protein Defective In Cystinosis, Is A H+-driven Lysosomal Cystin cystinosis is an inherited lysosomal storage disease characterized by defective Molecular pathogenesis of cystinosis effect of CTNS mutations on the http://embojournal.npgjournals.com/cgi/content/abstract/20/21/5940

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by Kalatzis, V. Articles by Gasnier, B. The EMBO Journal , Vol. 20, No. 21 pp. 5940-5949, 2001 European Molecular Biology Organization Cystinosin, the protein defective in cystinosis, is a H -driven lysosomal cystine transporter Vasiliki Kalatzis Corinne Antignac and Bruno Gasnier CNRS UPR 1929, Institut de Biologie Physico-Chimique, 13 rue Pierre et Marie Curie, 75005 Paris, France Corresponding authors e-mail: or Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However, the causative gene, CTNS , encodes a seven transmembrane domain lysosomal protein, cystinosin, unrelated to known transporters.

90. JAMA -- Abstract: Classic Nephropathic Cystinosis As An Adult Disease, November CONCLUSIONSAdult patients with nephropathic cystinosis suffer serious complications of cystinosis Gahl et al. N Engl J Med 2002;347111121. FULL TEXT http://jama.ama-assn.org/cgi/content/abstract/270/18/2200

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. 270 No. 18, November 10, 1993 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Theodoropoulos DS Gahl WA Articles that cite this article Contact me when this article is cited Classic nephropathic cystinosis as an adult disease D. S. Theodoropoulos, D. Krasnewich, M. I. Kaiser-Kupfer and W. A. Gahl Interinstitute Medical Genetics Program, National Institutes of Health Clinical Center, Bethesda, MD 20892. OBJECTIVETo delineate the clinical characteristics of infantile nephropathic cystinosis in adult patients who have undergone renal transplantation. DESIGNCase series. SETTINGClinical research unit. PATIENTSAll 36 adult patients with nephropathic cystinosis referred to the National Institutes of Health. OUTCOME MEASURESLongevity, growth

91. The Genomic Region Encompassing The Nephropathic Cystinosis Gene (CTNS): Complet Nephropathic cystinosis is an autosomal recessive disorder caused by the defective transport of cystine out of lysosomes. Recently, the causative gene http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=310836

92. Nephropathic Cystinosis Associated With Cardiomyopathy: A 27-year Clinical Follo Nephropathic cystinosis is an autosomal recessive disease resulting from The gene for cystinosis which has been cloned and identified as CTNS, http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=137602

93. Intralysosomal Cystine Accumulation In Mice Lacking Cystinosin, The Protein Defe cystinosis is an autosomal recessive disorder characterized by an accumulation of The most severe and frequent form of cystinosis, the infantile form, http://mcb.asm.org/cgi/content/abstract/22/21/7622

This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Books from ASM Press PubMed PubMed Citation Articles by Cherqui, S. Articles by Antignac, C. Molecular and Cellular Biology, November 2002, p. 7622-7632, Vol. 22, No. 21 American Society for Microbiology Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis Caroline Sevin, Ghislaine Hamard, Vasiliki Kalatzis, Mireille Sich, Marie O. Pequignot, Marc Abitbol, Michel Broyer, Marie-Claire Gubler, and Corinne Antignac INSERM U423, Department of Genetics, Received 24 June 2002/ Accepted 19 July 2002 Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. The causative gene, CTNS , encodes cystinosin, a seven-transmembrane-domain protein, which we recently showed to be a lysosomal cystine

94. Cystinosis - General Practice Notebook cystinosis is an autosomal recessive lyosomal storage disorder resulting from impaired cystine transport with a consequent intracellular cystine http://www.gpnotebook.co.uk/cache/1013645317.htm

cystinosis Cystinosis is an autosomal recessive lyosomal storage disorder resulting from impaired cystine transport with a consequent intracellular cystine accumulation in many tissues. This disease is the most common cause of renal tubular Fanconi's syndrome. This disease must not be confused with cystinuria which is an autosomal recessive disorder characterised by a specific dibasic aminoaciduria, the result of a defective tubular reabsorption mechanism. Click here for more information...

95. BENCHMARK Analysis Of Nephropathic Cystinosis Disease mapped nephropathic cystinosis Chromosome 17 Responsible gene 4826682 NP_004928 cystinosis, nephropathic; cystinosis Homo sapiens http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?013

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