61. Cystinosis cystinosis. Back to previous level Fanconi Syndrome Search PUBMED forFanconi Syndrome All Review Therapy Diagnosis; ANEMIA, CONGENITAL http://www.ohsu.edu/cliniweb/C12/C12.777.419.815.368.html

Cystinosis Back to previous level Fanconi Syndrome Search PUBMED for Fanconi Syndrome: All Review Therapy Diagnosis ... DENT DISEASE

62. Poster 38 - Diagnosis And Research In Cystinosis POSTER NO 38. Diagnosis and Research in cystinosis. We previously characterisedthe cystinosis gene, CTNS, and identified a spectrum of pathogenic mutations. http://hgm2001.hgu.mrc.ac.uk/Abstracts/Publish/WorkshopsPoster/WorkshopPoster02/

HGM2001 Poster Abstracts: 2. Mutation Detection POSTER NO: 38 Diagnosis and Research in Cystinosis Marlene Attard Mushfequr Haq, Helen Middleton-Price, Adrian Woolf, William van't Hoff, Margaret-M. Town Great Ormond Street Hospital for Children NHS Trust, Clinical Molecular Genetics, Great Ormond Street, London Institute of Child Health, University College London Medical School, Nephro-Urology Unit, 30 Guilford Street, London Imperial College Medical School, Section on Clinical Pharmacology, Hammersmith Hospital, London Nephropathic cystinosis (MIM 219800) is an autosomal recessive disorder characterised biochemically by the intracellular accumulation of cystine within lysosomes, and clinically by renal Fanconi syndrome with end-stage renal failure by 10 years of age. Two other clinical forms have been defined: juvenile (MIM 219900) and benign (MIM 219750) which differ in the age of onset of symptoms and the severity of the clinical course. We previously characterised the cystinosis gene, CTNS, and identified a spectrum of pathogenic mutations. The most common mutation was shown to be a large (57 kb) deletion encompassing exons 1-10 of CTNS. In response to clinicians and the families of cystinotic patients we have validated a CTNS mutation screening strategy, now in use at the clinical molecular genetics laboratory Great Ormond Street Hospital. 103 cystinosis patients were first screened by PCR for the presence of the common 57 kb deletion, using primers which amplify across the breakpoint region. Heterozygotes are distinguished by the production of an amplification product using primers for an intragenic marker. The results support previously published data on the frequency of this mutation among Europeans. Patients found to be heterozygous or who do not have the 57 kb deletion are then screened by SSCP in order to detect mutations in exons 1-12 of CTNS, and mutations identified by sequencing. We comment on the type and frequency of the mutations found to-date.

63. Cystinosis Chatroom Frame http://www.cystinosis.com/Chatroom/Chat_Frame.htm

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64. Cystinosis - General Practice Notebook medical information from General Practice Notebook. cystinosis. cystinosisis an autosomal recessive lyosomal storage disorder resulting 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...

65. Health Library - Cystinosis cystinosis. Self Help Clearinghouse. cystinosis Foundation, Inc. Nationalnetwork.Dedicated to providing services for http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29cys

66. Health Library - Cystinosis cystinosis. Self Help Clearinghouse. cystinosis Foundation, Inc. Nationalnetwork.Dedicated to providing services for http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

67. What Is It? What is cystinosis. cystinosis is a Metabolic and one normal gene. The parentsnever have any signs of the disease. What causes cystinosis? 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?

68. Arch Ophthalmol -- Page Not Found Ultrasound Biomicroscopy of the Eye in cystinosis Author Information Nils Mungan,MD, FRCSC; Ken K. Nischal, FRCOphth; Elise Héon, MD, FRCSC; Leslie MacKeen http://archopht.ama-assn.org/issues/v118n10/abs/ecs90331.html

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69. Cystinosis Information Page Diseases Database cystinosis Information Page. 2 synonyms or equivalents were found.cystinosis aka/or Cystine storage disease related topics and http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=3382

70. Nephropathic Cystinosis Nephropathic cystinosis. 5.3.2001. Click here to start. Table of Contents.Nephropathic cystinosis. Nephropathic cystinosis. cystinosiserfðir. http://www2.landspitali.is/hringur/fraedsluefni/slides/laeknar/vidar_1/

Nephropathic Cystinosis Click here to start Table of Contents Nephropathic Cystinosis Nephropathic Cystinosis Cystinosis-erfðir Nephropathic Cystinosis ... Nephropathic-cystinosis Author: Ríkisspítalar

71. Nephropathic Cystinosis Next Last Index Text, Slide 1 of 45. http://www2.landspitali.is/hringur/fraedsluefni/slides/laeknar/vidar_1/sld001.ht

72. Augenbefunde Als Leitsymptom Bei Cystinosis Translate this page http://www.onjoph.com/Artikel/Mayer_Cystinosis/cystinosis.html

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73. Health Library - Cystinosis Saint Luke's Health System eLibrary. cystinosis. Self Help Clearinghouse.cystinosis Foundation, Inc. National network http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

74. Directory :: Look.com cystinosis (5) See Also. Sites. cystinosis Patient UK Informationfor those living in the United Kingdom concerning this disease. http://www.look.com/searchroute/directorysearch.asp?p=523629

75. Dorlands Medical Dictionary cysteamine bitartrate, the hydrochloride salt of cysteamine, used forthe prevention of nephropathic cystinosis; administered orally. http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

76. Cystinosis only one click For Medical Professionals only. cystinosis,, Printthis article, a rare familial crystal deposition disease manifested http://www.amershamhealth.com/medcyclopaedia/Volume III 1/cystinosis.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Cystinosis, a rare familial crystal deposition disease manifested by widespread deposits of cystine crystals in the tissues of the body, specifically within cellular lysosomes. Infantile, juvenile, and adult varieties have been identified. Frequently damage to renal tubules and glomeruli results in electrolyte imbalance, cardiac failure, anaemia, rickets, and retinopathy. Cystine crystals may be deposited in bone, but the relationship of these lesions to radiolucent cystic lesions observed in bones and joints is not clear. DR The Encyclopaedia of Medical Imaging Volume III:1 Welcome to Medcyclopaedia.

77. 2808: CTNS MUTATIONS IN AN ITALIAN POPULATION OF CYSTINOSIS PATIENTS. Program Nr 2808 CTNS MUTATIONS IN AN ITALIAN POPULATION OF cystinosis PATIENTS. Thecystinosis 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.

78. 1318: Revealing The Molecular Basis Of Cystinosis In Dutch Patients By Mutation Program Nr 1318 Revealing the molecular basis of cystinosis in Dutchpatients 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.

79. -Images In Clinical Practice Brief Reports. Indian Pediatrics 2003;40 2124. Infantile cystinosis. Ten patientsof nephropathic cystinosis were admitted during the period 1995-2000. http://www.indianpediatrics.net/jan2003/jan-21-24.htm

Home Past Issue About IP About IAP ... Subscription Brief Reports Indian Pediatrics 2003;40: 21-24 Infantile Cystinosis M. Mirdehghan, A. Ahmadzadeh, M. Bana-Behbahani, Ismail Motlagh, Bashir Chomali From the Pediatric Nephrology Unit, Abuzar Children’s Medical Center, University of Medical Sciences, Ahvaz, Iran. Correspondence to: M. Mirdehghan, Director, Abuzar Pediatric Center, University of Medical Sciences, Ahvaz-Iran. E-mail: abuzarhosp-library@yahoo.com Manuscript received: July 16, 2001; Initial review completed: August 23, 2001; Revision accepted: June 26, 2001. Ten patients of nephropathic cystinosis were admitted during the period 1995-2000. Their mean age was 12 months. The signs of failure to thrive and advanced rickets were seen in all patients. Other features included polyuria, polydipsia, pathologic fractures and deafness. Laboratory findings included glucosuria, hyposthenuria, hypocalcemia, proteinuria and azotemia. Therapy with phosphocysteamine showed marked clinical improvement. Key words: Cystinosis, Infant.

80. NDI Terminology - Infantile Nephropathic Cystinosis infantile nephropathic cystinosis. DEFINITION Definition has yet tobe entered. Check back later. The definitions used in this glossary http://www.ndif.org/Terms/infantile_nephropathic_cystinosis.html

infantile nephropathic cystinosis DEFINITION: Definition has yet to be entered. Check back later. The definitions used in this glossary of terminology either have been provided by the authors of the articles, or have been extracted wholly or in part, or paraphrased from the following sources: The American Medical Association Encyclopedia of Medicine , Charles B. Clayman, MD, Medical Editor, Random House, New York, 1989; Dorland's Illustrated Medical Dictionary , 28th Edition, W. B. Saunders Company, Philadelphia, 1994; The Random House Dictionary of the English Language , Unabridged Edition, 1966; Webster's Ninth New Collegiate Dictionary TERMINOLOGY WHERE THIS WORD IS USED TABLE of CONTENTS INFO. REQUEST ENTRANCE

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