81. Maladie De Gilbert Et Maladie De Crigler-Najjar Translate this page Orthotopic liver transplantation for type I crigler-najjar syndrome. Genetic heterogeneity of crigler-najjar syndrome type I a study of 14 cases. http://www.hepatoweb.com/hepatobase/bilirubine.html

Revue de Presse du Mois Mobile HEPATOBASE ... Retour Liste Forme de la mise sur le site Date de mise sur le site Dr D.Mennecier Maladie de Gilbert et maladie de Crigler-Najjar (Voir La glucuroconjugaison de la bilirubine partiel dans la maladie de Gilbert, total et non inductible dans la maladie de Crigler-Najjar de type I, incomplet et surtout inductible dans la maladie de Crigler-Najjar de type II. Enfin, la maladie de Gilbert ne justifie aucun traitement. la maladie de Crigler-Najjar Remarque La maladie de Gilbert survenant surtout lors La maladie de Gilbert se transmet classiquement sur le mode autosomique dominant. Clinique : Remarque Maladie de Gilbert et maladie de Crigler-Najjar Philippe LABRUNE 157, rue de la Porte-de-Trivaux, 92141 Clarmart Cedex, France. 1. Arias IM, Gartner LM, Cohen M, Ben Ezzer J. Chronic non-hemolytic unconjugated hyperbilirubinemia with glucuronosyltransferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med 2. Crigler JF, Najjar VA. Congenital familial non-hemolytic jaundice with kernicterus. Pediatrics 3. Burchell B, Coughtrie MWH, Jansen PLM. Function and regulation of UDP-glucuronosyltransferase genes in health and liver disease : report of the 7th international workshop on glucuronidation, september 1993, Pitlochry, Scotland.

82. Long Term Phototherapy In Crigler-Najjar Syndrome -- Yohannan Et Al. 58 (6): 460 A 10 year old girl with type 1 criglernajjar syndrome has been treated withdaily phototherapy from birth. Her general physical and neurological http://adc.bmjjournals.com/cgi/content/abstract/archdischild;58/6/460

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Yohannan, M. Articles by Littlewood, J. PAPERS Long term phototherapy in Crigler-Najjar syndrome MD Yohannan, HJ Terry and JM Littlewood A 10 year old girl with type 1 Crigler-Najjar syndrome has been treated with daily phototherapy from birth. Her general physical and neurological development are normal. HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS ARCH DIS CHILD FETAL NEONATAL ED ED PRACTICE

83. Bile Bilirubin Pigment Analysis In Disorders Of Bilirubin Metabolism In Early In Based on these, two children were diagnosed with criglernajjar syndrome (CNS) Accurate diagnosis of crigler-najjar syndrome is important because of the http://adc.bmjjournals.com/cgi/content/full/85/1/38

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Lee, W S Articles by Clarke, D J Related Collections Liver, including hepatitis Other Pediatrics Related Article Arch Dis Child 38-42 ( July ) Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy W S Lee a , P J McKiernan a , S V Beath a , M A Preece b , D Baty c , D A Kelly a , B Burchell c , D J Clarke d a Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK, b Biochemistry Unit, Birmingham Children's Hospital, c Department of Molecular and Cellular Pathology, Ninewells Hospital and Medical School, Dundee, Scotland, UK

84. Gene Repair Technology criglernajjar syndrome, discovered 47 years ago, is characterized by an accumulationof bilirubin in the body. In most cases, excessive accumulation of http://www.famohio.org/_disc5/000000b6.htm

FAMOHIO Discussion Page Home Contents Search Post ... Previous Up Gene Repair Technology From: Company Press Release Date: 31 Aug 1999 Time: Remote Name: Comments SOURCE: StockSmart (Dallas, TX) SUPPLIER: World Wide Web DATE: 08/30/1999 TIME: 00:00 HEADLINE: Company HIGHLIGHTS: University of Minnesota Source Website: http://www.stocksmart.com Industry News US Markets Most Active World Markets Mutual Funds Portfolio Tools Monday August 30, 5:00 PM (EST) STUDY HERALDED AS LANDMARK IN SCIENCE PUBLISHED REPORT DETAILS FIRST PERMANENT REPAIR OF A GENETIC DEFECT IN AN ANIMAL MODEL KIMERAGEN'S Gene Repair Technology Highlighted in August 31, 1999 Issue of Proceedings for the National Academy of Science NEWTOWN, Pa., Aug 30, 1999 /PRNewswire via COMTEX Kimeragen, Inc. today announced that researchers at the University of Minnesota (Minneapolis) and Albert Einstein College of Medicine (New York) have utilized the Company's gene repair technology, termed chimeraplasty, to permanently correct a gene defect in the Gunn rat model of Crigler- Najjar syndrome type I. The results of this study are reported in the current issue of the Proceedings of the National Academy of Sciences. "To my knowledge this is the first report that a disease based in a gene has been permanently corrected by the intravenous infusion of a drug," remarked Clifford J. Steer, M.D., Professor of Medicine and Cell Biology at the University of Minnesota Medical Center and lead investigator of the study. "Of the thousands of diseases based in our genes, the majority are caused by a single change in a gene. In this study, we not only corrected the gene, we repaired one of the more difficult defects in genes that cause disease: one missing nucleotide. The success of this technique suggests applicability of chimeraplasty to common and rare diseases," stated Jayanta Roy-Chowdhury, M.D., Professor of Medicine and Molecular Genetics at the Albert Einstein College of Medicine and co-author of the study.

85. GMTV Your Health - Powered By Medicdirect.co.uk criglernajjar syndrome, Go back to previous page. Definition. Crigler-Najjarsyndrome is caused by a disorder in the metabolism of bilirubin, the chemical http://gmtv.medicdirect.co.uk/clinics/default.asp?step=4&pid=2032

86. Discrimination Between Crigler-Najjar Type I And II By Expression Of Mutant Bili criglernajjar syndrome types I and II. Clinical experienceKing s CollegeHospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=330068

87. Bilirubin: Common Questions criglernajjar syndrome may respond to certain enzyme drug therapy or may requirea liver transplant. Jaundice caused by an obstruction often is resolved by http://www.labtestsonline.org/understanding/analytes/bilirubin/faq.html

TESTS Test not listed? A/G Ratio ACE ACT ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldolase Aldosterone Allergies ALP Alpha-1 Antitrypsin ALT Ammonia Amylase ANA Antibody Tests Antiglobulin, Direct Antiglobulin, Indirect Antiphospholipids Antithrombin Apo A Apo B ApoE Genotyping aPTT AST Autoantibodies Bicarbonate Bilirubin Blood Culture Blood Gases Blood Smear BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcitonin Calcium Cardiac Biomarkers Cardiac Risk Cardiolipin Antibodies Catecholamines CBC CCP C. diff CEA Celiac Disease Tests CF Gene Mutation Chemistry Panels Chlamydia Chloride Cholesterol CK CK-MB CMP CMV Coagulation Factors Complement Levels Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity

88. Gene Repair In Rats Raises Hope repaired the genetic defect associated with criglernajjar syndrome, though not identical, to that seen in human crigler-najjar syndrome – Steer http://www.vhl.org/newsletter/vhl2000/00airats.htm

Basic Facts About VHL Managing Your Health Information for Health Care Professionals Research ... Press Room Families, Friends, Physicians, Researchers working together to improve diagnosis, treatment, quality of life for people affected by von Hippel-Lindau disease. Gene repair in rats raises hope By Penny Stern M.D., Reuters Health As you read in the press about advances in gene repair, look for advancement of knowledge about the technology. Once there are good vehicles for delivery of repair information to all cells, then the possibility of repair of the VHL gene is more likely. Through the use of a novel technique termed "chimeraplasty", researchers have, for the first time, successfully repaired the genetic defect associated with Crigler-Najjar syndrome, a rare but devastating liver disease, in lab rats. The finding may lead to gene therapies that cure other genetic diseases such as hemophilia, sickle cell anemia, [and von Hippel-Lindau disease,] according to the report published in the Proceedings of the National Academy of Sciences.

89. Annals Of Surgery - UserLogin criglernajjar syndrome type 1 (CNS1) is characterized by an unconjugated Orthotopic liver transplantation for type I crigler-najjar syndrome. http://www.annalsofsurgery.com/pt/re/annos/fulltext.00000658-199904000-00017.htm

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90. UniProtKB/Swiss-Prot Entry P22309 [UD11_HUMAN] UDP-glucuronosyltransferase 1-1 P Genetic heterogeneity of criglernajjar syndrome type I a study of 14 cases. ; Hum.Genet. 94693-697(1994). 11, VARIANTS CN GLU-175; ARG-177; TRP-209; http://www.expasy.org/cgi-bin/niceprot.pl?UD11_HUMAN

91. Syndrome De Crigler-Najjar : Sites Et Documents Francophones Translate this page crigler-najjar, syndrome de - synonyme bilirubine uridinediphosphateglucuronosyltransférase, déficit en Par Pr Labrune P. http://www.chu-rouen.fr/ssf/pathol/criglernajjarsyndrome.html

Syndrome de Crigler-Najjar Synonyme(s) CISMeF Bilirubine uridinediphosphate glucuronosyltransférase, déficit en ; Crigler-Najjar ; crigler-Najjar, syndrome . Synonyme(s) MeSH Ictère familial congénital de Crigler-Najjar ; Ictère héréditaire de Crigler-Najjar ; Maladie de Crigler-Najjar Voir aussi glucuronosyltransférase Arborescence(s) syndrome de Crigler-Najjar crigler-najjar syndrome maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic guide ressources Crigler-Najjar, syndrome de - synonyme : bilirubine uridinediphosphate glucuronosyltransférase, déficit en [Par Pr Labrune P. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2004 ; visité le : 02/07/2003].

92. Crigler-Najjar, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/criglernajjar.html

Accès à la base de données Orphanet Crigler-Najjar, syndrome de Accès direct aux détails Alias Crigler-Najjar, syndrome de, type 1 Crigler-Najjar, syndrome de, type 2 (Arias, syndrome de) Résumé Texte(s) long(s) http://www.orpha.net/data/patho/FR/crigler.pdf Signes de la maladie ICTERE MORT NE / MORT NEONATALE TRANSMISSION AUTOSOMIQUE RECESSIVE CONVULSIONS EPILEPSIE HYPOTONIE MOUVEMENTS ANORMAUX RETARD MENTAL / PSYCHO-MOTEUR Mise à jour : 04/09/2005 Accès à la base de données Orphanet

93. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Maladie(s) incluse(s) crigler-najjar, syndrome de, type 1 crigler-najjar, syndromede, type 2 (Arias, syndrome de). CIM E80.5. La maladie de crigler-najjar http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=205

94. NORD - National Organization For Rare Disorders, Inc. National Organization for Rare Disorders is dedicated to helping people withrare, orphan diseases. Rarediseases.org contains information on the prevention, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Crigler Najja

95. Crigler Najjar Syndrome Type I Crigler Najjar syndrome type I is a very rare inherited metabolic disordercharacterized by the complete http://webcenter.health.webmd.netscape.com/hw/raising_a_family/nord1084.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Crigler Najjar Syndrome Type I Important It is possible that the main title of the report Crigler Najjar Syndrome Type I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Bilirubin Glucuronosyltransferase Deficiency Type I Uridine Diphosphate Glucuronosyltransferase, Severe Def. Type I Congenital Familial Nonhemolytic Jaundice Type I Disorder Subdivisions None General Discussion Crigler-Najjar syndrome type I is a very rare inherited metabolic disorder characterized by the complete absence of the enzyme uridine diphosphate glucuronosyltransferase (UDPGT), which is normally found in the liver. This enzyme is required for the conversion (conjugation) and subsequent excretion of bilirubin from the body. When UDP-glucuronosyltransferase activity is absent, these metabolic processes are hampered and abnormally high levels of bilirubin accumulate in the blood (hyperbilirubinemia). Within the first few days of life, most infants with Crigler-Najjar syndrome type I develop persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). In addition, some affected individuals may develop kernicterus, a potentially life-threatening neurological condition in which toxic levels of bilirubin accumulate in the brain, causing damage to the central nervous system. Early signs of kernicterus may include lack of energy (lethargy), vomiting, fever, and/or unsatisfactory feedings. More serious signs of kernicterus may develop, including abnormal muscle rigidity, resulting in muscle spasms (dystonia) and involuntary movements of the limbs and/or entire body (athetosis). Crigler-Najjar syndrome type I is inherited as an autosomal recessive genetic trait.

96. Hill Health Topics A-Z - Crigler Najjar Syndrome Type I Crigler Najjar syndrome Type I. National Organization for Rare Disorders.Important It is possible that the main title of the report Crigler Najjar syndrome http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord1084&S

97. Indian Pediatrics - Editorial Crigler Najjar syndrome type I would need auxiliary liver transplantation. Orthotopic liver transplantation for type I Crigler Najjar syndrome. http://www.indianpediatrics.net/apr1999/apr-356-361.htm

Home Past Issue About IP About IAP ... Subscription Original Articles Indian Pediatrics 1999; 36:356-361 Need for Liver Transplantation in Indian Children P. Mehrotra and S.K. Yachha From the Department of Gastroenterology (Pediatric GE), San jay Gandhi Postgraduate Institute of Medical Sciences, Lucknow Reprint requests: Dr. Surender K. Yachha, Associate Professor, Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rai Bareli Road, Lucknow (Uttar Pradesh) 014, India. Manuscript received: March Initial review completed: May Revision accepted: October 21, 1998. Abstract: Background: Liver transplantation (LT) is the most successful and accepted mode of therapy for failing liver in children. Pediatric LT has neither been widely attempted nor its need objectively assessed in our country. Objective: To assess requirement of LT in children at a tertiary care hospital. Method: Data of children admitted to pediatric GE services (January 1992 to June were retrospectively analyzed. Subgroups of children with acute liver disease (ALD), chronic liver disease (CLD), neonatal cholestasis syndrome (NCS) and other etiology were evaluated for need for LT according to established criteria. Results: Qf the total 301 inpatients with liver diseases assessed atour center, ALD constituted

98. Improvements In Long Term Phototherapy For Patients With Crigler - Najjar Syndro Patients with Crigler Najjar syndrome Type I are being treated with long-termblue-light phototherapy into childhood, adolescence and beyond. http://www.iop.org/EJ/abstract/0031-9155/41/11/022

@import url(http://ej.iop.org/style/nu/EJ.css); Quick guide Site map Athens login IOP login: Password: Create account Alerts Contact us Journals Home ... This issue Helen Job et al Phys. Med. Biol. Improvements in long term phototherapy for patients with Crigler - Najjar syndrome Type I Helen Job Graham Hart and Geoffrey Lealman Medical Physics Department, Bradford Hospitals NHS Trust, Bradford Royal Infirmary, Duckworth Lane, Bradford BD9 6RJ, UK Department of Paediatrics, Bradford Hospitals NHS Trust, Bradford Royal Infirmary, Duckworth Lane, Bradford BD9 6RJ, UK Received 27 March 1996, in final form 2 July 1996 Print publication: Issue 11 (November 1996) Abstract. Patients with Crigler - Najjar syndrome Type I are being treated with long-term blue-light phototherapy into childhood, adolescence and beyond. Phototherapy systems adapted from sunbed-type bases fitted with blue-emitting fluorescent tubes have been described. These systems provide higher irradiances and improved patient compliance compared with overhead therapy systems used in neonatal phototherapy. The acrylic bases of such units are, however, not designed to provide adequate levels of comfort for prolonged treatment in the long term. Previous work has shown that layer(s) of transparent `bubble-wrap' can be used to address this problem, although the material absorbs light and provides lower levels of comfort for older or larger patients. We have used designs of transparent plastic lilos that provide better cushioning, although tend to puncture, and share with bubble-wrap a low porosity leading to patient discomfort. We have investigated the use of standard mesh and high-transmission fabrics stretched over an adjustable-tension frame. This method in particular combines a high degree of comfort with a clinically effective blue-light irradiance level, and hence appears to provide a satisfactory method of phototherapy delivery. The development of higher transmission materials offers further potential for improvement.

99. Crigler Najjar Syndrome Prev Term cricothyroideus Next Term crime prevention. Crigler Najjar syndrome.Use. hereditary hyperbilirubinemia. Send your comments to MultiTes. http://crisp.cit.nih.gov/Thesaurus/00010860.htm

Prev Term: cricothyroideus Next Term: crime prevention Crigler Najjar syndrome Use: hereditary hyperbilirubinemia Send your comments to: Melody Lowe

100. Crigler Najjar Syndrome Type I Synonyms, Eastern Carolina Crigler Najjar syndrome Type I Synonyms University Health Systems of EasternCarolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/112528.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Crigler Najjar Syndrome Type I Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Crigler Najjar Syndrome Type I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Bilirubin Glucuronosyltransferase Deficiency Type I Uridine Diphosphate Glucuronosyltransferase, Severe Def. Type I Congenital Familial Nonhemolytic Jaundice Type I Disorder Subdivisions None General Discussion Crigler-Najjar syndrome type I is a very rare inherited metabolic disorder characterized by the complete absence of the enzyme uridine diphosphate glucuronosyltransferase (UDPGT), which is normally found in the liver. This enzyme is required for the conversion (conjugation) and subsequent excretion of bilirubin from the body. When UDP-glucuronosyltransferase activity is absent, these metabolic processes are hampered and abnormally high levels of bilirubin accumulate in the blood (hyperbilirubinemia). Within the first few days of life, most infants with Crigler-Najjar syndrome type I develop persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). In addition, some affected individuals may develop kernicterus, a potentially life-threatening neurological condition in which toxic levels of bilirubin accumulate in the brain, causing damage to the central nervous system. Early signs of kernicterus may include lack of energy (lethargy), vomiting, fever, and/or unsatisfactory feedings. More serious signs of kernicterus may develop, including abnormal muscle rigidity, resulting in muscle spasms (dystonia) and involuntary movements of the limbs and/or entire body (athetosis). Crigler-Najjar syndrome type I is inherited as an autosomal recessive genetic trait.

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