81. Chest: Pulmonary Dysfunction In Adults With Nephropathic Cystinosis - ) FOR · Advanced Search · Help. You are Here Articles Chest Feb, 2001 Article. Pulmonary Dysfunction in Adults With Nephropathic cystinosis(*). http://www.findarticles.com/cf_dls/m0984/2_119/71403692/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Chest Feb, 2001 Content provided in partnership with Print friendly Tell a friend Find subscription deals Pulmonary Dysfunction in Adults With Nephropathic Cystinosis - ) Chest Feb, 2001 by Yair Anikster Felicitas Lacbawan Mark Brantly Bernadette L. Gochuico ... William A. Gahl Objective: To characterize the pulmonary dysfunction in patients with nephropathic cystinosis after renal transplantation. Design: Cross-sectional analysis of consecutive adult patients. Patients: Twelve adult, nephropathic cystinosis patients and 3 adult, ocular, nonnephropathic cystinosis patients admitted to the National Institutes of Health Clinical Center. Conclusion: The distal myopathy characteristic of nephropathic cystinosis results in an extraparenchymal pattern of restrictive lung disease in adults who have not received long-term cystine depletion. Whether or not oral cysteamine therapy can prevent this complication remains to be determined. (CHEST 2001; 119:394-401) Key words: CT scan; myopathy; pulmonary function tests; restrictive lung disease

82. Cystinosis Research Network Return to Search Page cystinosis Research Network. Email crn@cystinosis.org. Conditions cystinosis. Hours Answered 9am - 5pm Voicemail yes. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Cyst

83. 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

84. Specialty Laboratories ::: We Help Doctors Help Patients Print View. cystinosis Wayne Grody, MD, Ph.D The basic defect in cystinosis, an autosomal recessive disorder, is deficient efflux of free cystine from lysosomes http://www.specialtylabs.com/books/display.asp?id=1120

85. Alexa Web Search - Subjects > Health > Conditions And Diseases > Rare Disorders cystinosis Research Network Information about the organization and their mission. Extensive www.cystinosis.org Site Info. cystinosis http://www.alexa.com/browse/general?catid=523629&mode=general

86. 3rd-International Cystinosis-conference-programme-anglais-contenu 3RD INTERNATIONAL cystinosis CONFERENCE PROGRAMME Tarragona, 9th11th July 2004. LOOKING FORWARD IN cystinosis. 1600. The UK cystinosis registry, Suzanne Collin. http://www.airg-france.org/textes/agenda-airg/congres-cystinose-tarragone-2004/a

RD INTERNATIONAL CYSTINOSIS CONFERENCE PROGRAMME Tarragona, 9 th th July 2004 LOOKING FORWARD IN CYSTINOSIS Friday July 9, 2004 n PARALLEL SESSION FOR PROFESSIONALS n Room A Introduction Molecular basis of cystinosis Corinne Antignac Biochemical basis of cystinosis Break Leucocyte cystine : the key measurement Neil Dalton Supportive therapy Craig Langman To be confirmed Michel Broyer Management of the cystinosis transplant Minnie Sarwal Lunch n PARALLEL SESSION FOR FAMILIES n Room B Introduction and welcome Parents panel Lunch n PLENARY SESSION n Room A Reports from the foundations Break The UK Cystinosis registry Suzanne Collin Cystinosis in Spain Angel Vila Lopez, Carmen Garcia Meseguer

87. Project: Cystinosis: A Better Treatment Strategy And Insight Into Its Pathogenes from Project cystinosis a b . entire NIWI site (en), Help. Project cystinosis a better treatment strategy and insight into its pathogenesis. http://www.niwi.knaw.nl/en/oi/nod/onderzoek/OND1282121/toon

Login NIWI (en) Research Information NOD - Dutch Research Database ... Powered by from "Project: Cystinosis: a b..." entire NIWI site (en) Project: Cystinosis: a better treatment strategy and insight into its pathogenesis Titel Cystinose: een betere behandelingsstrategie en inzicht in de pathogenese Abstract Cystinosis is an autosomal recessively inherited disease which is caused by a mutation in cystinosin. This is a transport protein localized in the lysosome, needed for the transport of cystine from the lysosome. In a way that is not yet understood this leads to Fanconi syndrome and later - at the age of about 9 - to renal insuffiency along with increased damage to other organs, particularly the thyroidal gland and the eye (cornea, retina). Therapy with cysteamine, which lowers the concentration of cystine in the lysosomal compartment, only has a retarding effect on the occurrence of symptoms. Aim of this study is to arrive at a better treatment of cystinosis. The first part of the research aims at a more effective treatment with cysteamine. Probably the present dosage of 4 times a day is insufficient. The cystine concentration will be monitored during 24 hours in the granulocyte, lymphocyte and, if possible, monocyte. A concentration in the heterozygote range over 24 hours should be strived after. This is not reached with the present scheme. Since it is assumed that the increased cystine concentration in the lysosome leads to a lower ATP production, the mitochondrial function will be tested in granulocyte, lymphocyte and fibroblasts and the result will be related to the cystine concentration.

88. Project: Cystinosis: Moleculaire Karakterisering - Evaluatie Van Therapie (NIWI) from Project cystinosis mol . entire NIWI site (nl), Help. Project cystinosis moleculaire karakterisering evaluatie van therapie. switch to en. http://www.niwi.knaw.nl/nl/oi/nod/onderzoek/OND1243088/toon

Login NIWI (nl) Onderzoek Informatie NOD - Nederlandse Onderzoek Databank ... Powered by from "Project: Cystinosis: mol..." entire NIWI site (nl) Project: Cystinosis: moleculaire karakterisering - evaluatie van therapie Titel-Eng Cystinosis: molecular characterisation - evaluation of therapy Samenvatting Cystinose is een autosomaal-recessief overervend ziektebeeld veroorzaakt door een gestoord transport over het lysosomale membraan van cystine. Dit gestoorde transport is te wijten aan een defect in cystinosine, een eiwit gelokaliseerd in het lysosomaal membraan. Het onderzoek is gericht op het vaststellen van het genetisch defect en evaluatie (verbetering) van de cysteamine-therapie. Getracht wordt het inzicht in de pathogenese te verdiepen. Samenvatting-Eng Cystinosis, an inborn error of metabolism with an autosomal recessive inheritance, is characterized by lysosomal storage of cystine due to impaired transport of cystine out of the lysosome. Clinically it is revealed by Fanconi syndrome, slowly progressing to renal failure. Recently the gene responsible for transport of cystine has been cloned. The gene encodes for a lysosomal membrane protein called cystinosin and maps to chromosome 17p. In this project mutation detection studies will be performed and the pathogenesis will be investigated in cultured human proximal tubule cells. Looptijd 01/2000 - onbekend Betrokken organisaties Penvoerder: Afdeling Kindergeneeskunde (KUN) Betrokken personen

89. Revista Chilena De Pediatría - Cystinosis Nephropathy In Children Translate this page cystinosis nephropathy in children. Nephropathy caused by cystinosis is a rare recessive disorder produced by a defect in the lysosomal transport of cysteine. http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062000000200007&l

90. PillSupplier.com - Conditions And Diseases/Rare Disorders/Cystinosis Category cystinosis. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Rare Disorders/cystinosis. Links http://www.pillsupplier.com/dir/961/

Category: Cystinosis HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Rare Disorders/Cystinosis Links: Cystinosis Central [rate it] [review it] Information about this disorder, conferences, data for physicians, updates and links. Cystinosis Foundation [rate it] [review it] 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 [rate it] [review it] Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:41:16 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

91. Cystinosin, The Protein Defective In Cystinosis, Is A H+-driven Lysosomal Cystin emboj/20.21.5940. Cystinosin, the protein defective in cystinosis, is aH + driven lysosomal cystine transporter. Vasiliki Kalatzis http://www.nature.com/cgi-taf/DynaPage.taf?file=/emboj/journal/v20/n21/full/7594

92. 2808: CTNS MUTATIONS IN AN ITALIAN POPULATION OF CYSTINOSIS PATIENTS. Program Nr 2808 CTNS MUTATIONS IN AN ITALIAN POPULATION OF cystinosis PATIENTS. The cystinosis gene was mapped to chromosome 17p13 in 1995 and cloned in 1998. http://www.faseb.org/genetics/ashg99/f2808.htm

Program Nr: 2808 CTNS MUTATIONS IN AN ITALIAN POPULATION OF CYSTINOSIS PATIENTS. R. Tenconi , S. Mason , M. Clementi , R. Dall'Amico , G. Zacchello , G. Ardissino , C. Pecoraro , A. Burlina , E. Zamorani , F. Ginevri , M. Pennesi , P. Sorino 1) Dept Ped, Clinical Genetics, Univ Padova, Padova, Italy; 2) Italian Registry of Cystinosis.

93. 1318: Revealing The Molecular Basis Of Cystinosis In Dutch Patients By Mutation Program Nr 1318 Revealing the molecular basis of cystinosis in Dutch patients by mutation detection in the CTNS gene. SG Heil 1 http://www.faseb.org/genetics/ashg99/f1318.htm

Program Nr: 1318 Revealing the molecular basis of cystinosis in Dutch patients by mutation detection in the CTNS gene. S.G. Heil , N.M.J. Van der Put , H.G. Brunner , J.M.F. Trijbels , L.A.H. Monnens , H.J. Blom 1) Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands; 2) Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands. Nephropathic cystinosis is an inborn error of metabolism with an autosomal recessive inheritance pattern. Cystinosis is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Clinical features are renal Fanconi syndrome, failure to thrive and crystals in the eye-lens. Recently, the gene responsible for membrane transport of cystine (CTNS), has been cloned. This gene encodes an integral membrane protein, which is called cystinosin. The CTNS gene has 12 exons and its 2.6 kb mRNA codes for a 367-amino acid cystine transporter with 7 transmembrane domains. Mutation detection of European patients revealed a common 65-kb deletion, and several other mutations spread throughout the entire coding region. Next to cystine determination in polymorphic nuclear cells, molecular genetic analysis enables early diagnosis which is critical for the proper treatment of this disease.

94. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?219800

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