61. SLCentral Directory - Health - Conditions And Diseases - C Palsy@ (143); Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (1); Cervical http://www.slcentral.com/directory/index.php/Health/Conditions_and_Diseases/C/

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62. ECI: Medical Diagnoses C 756.9. Cerebrocostomandibular (SmithTheiler-Schachenmann) Syndrome. 759.89. cerebrohepatorenal syndrome. 759.89. CHARGE Syndrome (CHARGE Association). 756.4. http://www.eci.state.tx.us/meddiagnosesC.htm

What is ECI Agency History How Babies Develop Make a Referral ... Return Home Medical Diagnoses Medical diagnoses are listed alphabetically. Simply click the letter of the alphabet that is the first letter of the diagnosis. A B C D ... P Q R S T U V W X Y Z C ICD-9 Code Diagnosis Camptomelic Dysplasia (CMD I, Camptomelic Dwarfism) Canavan Disease Carpenter Syndrome (Acrocephalopolysyndactyly) Caudal Regression Syndrome (Sirenomelia) Cerebellar Astrocytoma Cerebral Ataxia, Congenital Cerebral Cysts, Congenital Cerebral Dysplasia Cerebral Gigantism (Soto's Syndrome) Cerebral Palsy, Infantile, Diplegic (Congenital Diplegia, Paraplegia) Cerebral Palsy, Infantile, Hemiplegic (Congenital Hemiplegia) Cerebral Palsy, Infantile, Monoplegic Cerebral Palsy, Infantile, Other Specified Cerebral Palsy, Infantile, Quadriplegic Cerebral Palsy, Infantile, Unspecified Cerebrocostomandibular (Smith-Theiler-Schachenmann) Syndrome Cerebrohepatorenal Syndrome CHARGE Syndrome (CHARGE Association) Chondrodysplasia Punctata Syndromes (Calcificans Congenita) Chromosomal Anomalies - 10p+ Chromosomal Anomalies - 10q+ Chromosomal Anomalies - 11p- Chromosomal Anomalies - 12p- Chromosomal Anomalies - 13q- Chromosomal Anomalies - 13q+ Chromosomal Anomalies - 18q- Chromosomal Anomalies - 21q- Chromosomal Anomalies - 22q- Chromosomal Anomalies - 3q+ Chromosomal Anomalies - 4p- Chromosomal Anomalies - 4p+ Chromosomal Anomalies - 4q- Chromosomal Anomalies - 4q+ Chromosomal Anomalies - 5p- (Cri Du Chat or Cat's Cry)

63. SearchBug Directory: Health: Conditions_and_Diseases: C Abscess (4) Cerebral Edema (3) Cerebral Gigantism (5) Cerebral Palsy (156) Cerebrocostomandibular Syndrome (2) cerebrohepatorenal syndrome (5) Cerebrotendinous http://www.searchbug.com/directory.aspx/Health/Conditions_and_Diseases/C/

All Searches Auctions CompanyFinder Entertainment ... Travel Search the Web: Web Images Audio Files News Multimedia Shopping Open Directory Search: Featured Websites DevSource - devsource.ziffdavis.com Breaking application development news and Microsoft Windows developer resources and kits for the enterprise developer and programming. Programming resources on Visual Basic, VB, C++, C#, .Net, XML, tutorials, developer forums and code samples. - e-learningcenter.com High-Quality, Affordable and Effective online training in C Programming. Easily learn this powerful programming language and improve your skills. Your complete satisfaction is guaranteed. C/C++ Database Library - codebase.com Fast, multi-platform, royalty-free, source included, scalable, secure C - pages.ebay.com Bid at eBay and find thousands of great buys on just about anything! C Health Conditions and Diseases Go to Directory Home Categories Campylobacter Pylori Campylobacteriosis Canavan Disease Cancer ... Cytomegalovirus Help build the largest human-edited directory on the web. Submit a Site Update URL Open Directory Project Become an Editor ... Report a Problem 2004, SearchBug.com, LLC

64. Descripteur : Zellweger Syndrome = ZELLWEGER, SYNDROME Synonymes CEREBROHEPATORENAL, SYNDROME ; SYNDROME CEREBROHEPATORENAL ; SYNDROME ZELLWEGER ; cerebrohepatorenal syndrome ; ZellwegerLike Syndrome ; Cerebro http://www.saphirdoc.ch/Thesaurus.htm&numrec=051192446937420

SAPHIR : Accueil Identifiant : Mot de passe : Dossiers Publications OMS (Europe) Bibliographies Index Auteurs Types de document Recherche Simple Expert Revues Recherche rapide Descripteur : Zellweger Syndrome = ZELLWEGER, SYNDROME An autosomal recessive peroxisomal disorder that typically presents in the neonatal period and is usually fatal. Clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties. Pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts. Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood (From Adams et al., Principles of Neurology, 6th ed, p946) C - Diseases : Congenital, Hereditary, and Neonatal Diseases and Abnormalities: Abnormalities: Abnormalities, Multiple: Zellweger Syndrome C - Diseases : Urologic and Male Genital Diseases: Urologic Diseases: Kidney Diseases: Zellweger Syndrome C - Diseases : Nutritional and Metabolic Diseases: Metabolic Diseases: Metabolism, Inborn Errors: Lipid Metabolism, Inborn Errors: Peroxisomal Disorders:

65. Health/Conditions And Diseases/C 3 Cerebral Edema@ 3 Cerebral Gigantism@ 5 Cerebral Palsy@ 142 Cerebrocostomandibular Syndrome@ 2 cerebrohepatorenal syndrome@ 5 Cerebrotendinous http://www.ebroadcast-info.com/information/Health/Conditions_and_Diseases/C/reso

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66. ZELLWEGER SYNDROME Name. ZELLWEGER SYNDROME Synonyms. cerebrohepatorenal syndrome (codes). Definition. An autosomal recessive peroxisomal disorder that http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=381

67. Kennedy Krieger Institute Metabolic Disorders Peroxisomal Disorders Zellweger Syndrome (cerebrohepatorenal syndrome); X-Linked Adrenoleukodystrophy; Refsum Disease. Related KKI http://www.kennedykrieger.org/kki_diag.jsp?pid=1093

68. Entrez PubMed Abstract, History of the cerebrohepatorenal syndrome of Zellweger and other peroxisomal disorders. South Med J. 1988 Mar;81(3)35764. Review. http://www.biomedcentral.com/pubmed/related/15102341

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Items 1-20 of 101 of 6 Next Breitling R. Related Articles, Links Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor. BMC Pediatr. 2004 Mar 12;4(1):5.

69. Generalized Peroxisomal Defects spectrum is comprised of three disorders Zellweger syndrome (ZS; also has been referred to as cerebrohepatorenal syndrome), neonatal adrenoleukodystrophy (NALD http://www.peroxisome.org/Scientist/Biogenesis/generalizeddefectstext.html

Peroxisome Biogenesis Disorders The Zellweger spectrum The Zellweger spectrum is comprised of three disorders: Zellweger syndrome (ZS; also has been referred to as cerebrohepatorenal syndrome), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). Collectively, these disorders, along with rhizomelic chondrodysplasia punctata (RCDP; see below) are called the peroxisome biogenesis disorders, or PBDs. These disorders are caused by defects in any of at least 14 genes whose products are required for the proper assembly of the peroxisome. The distinction between the disorders is based on severity, with ZS being the most severe and IRD the least severe. The Zellweger spectrum of diseases are inherited in an autosomal recessive fashion, and the incidence of these disorders is somewhere between 1/25,000 and 1/50,000 births. Clinical phenotypes of the Zellweger spectrum Biochemical Phenotypes of the Zellweger spectrum The biochemical phenotype of these disorders is reflective of the defect in peroxisome biogenesis. Very long chain fatty acid (VLCFA) levels are increased compared to normal, phytanic acid levels are increased, and plasmalogen levels are reduced. There are also high levels of the bile acid intermediates THCA and DHCA, as well as increased levels of the lysine metabolite pipecolic acid. Genetic basis of the Zellweger spectrum As previously stated, diseases of the Zellweger spectrum result from defects in peroxisome biogenesis. Patient cell lines have been divided into 12 complementation groups (CGs), demonstrating that there are at least 12 genes involved in human peroxisome biogenesis. The molecular basis of disease for 11 of these complementation groups has been elucidated (see table below). CG 11 is not part of the Zellweger spectrum, but rather has the distinct phenotype of RCDP (see below).

70. Research Faculty - Amiya K. Hajra has been confirmed by the finding that in genetic diseases involving peroxisomal disorders, such as in Zellweger cerebrohepatorenal syndrome, the tissues of http://www.med.umich.edu/mhri/researchfaculty/hajra.htm

Amiya K. Hajra Senior Research Scientist Mental Health Research Institute Professor of Biological Chemistry Research Faculty - Amiya K. Hajra Metabolism and Function of Phospholipids in Biomembranes The research in this laboratory centers on the mechanism and control of phospholipid biogenesis at the enzymic and genetic levels, and also on the role of phospholipids in signal transduction across biological membranes. E. coli and we have used them to study their catalytic mechanisms and to raise specific antibodies to help identify the native enzymes and also to study the transcriptional and translational controls of their biogenesis under different physiological conditions. Recent findings indicate that not only ether lipids but cellular non-ether glycerolipids, such as triglycerides in adipose tissue, are also synthesized via the acyl DHAP pathway. We are also involved in studying the generation and metabolism of lipid second messengers, such as diacylglycerol (DAG), in biological signal transduction. We have developed a method for quantitative molecular species analysis of DAG to differentiate among its various cellular roles. Using this method, we have shown that following receptor activation, both inositol and choline-containing lipids break down to form DAG. However, the DAG formed from inositol lipids is recycled back to the parent lipids, while the DAG from choline- containing lipids is not recycled. The physiological function and the mechanism of recycling of the large amount of DAG formed after chronic receptor activation are being studied in our laboratory.

71. Descipher™ - Disease And Condition Index - C cerebral infarction cerebral ischemia, transient cerebral palsy cerebral pseudosclerosis cerebral thrombosis cerebrohepatorenal syndrome cerebrospinal fever http://www.descipher.com/argo/diseases/c/

June 2, 2004 home faq lab test index disease index ... search Disease and Condition Index - C a b c d ... other C C1-esterase inhibitor deficiency C1-inhibitor deficiency calcinosis, familial tumoral calcium pyrophosphate crystal deposition disease ... search Please email webmaster@descipher.com with any comments you may have.

72. Congenital Cataract - Overview PierreRobin syndrome; familial congenital cataracts; Hallerman-Streiff syndrome; cerebrohepatorenal syndrome (Lowe’s syndrome); Trisomy http://www.humc.net/humc_ency/ency/article/001615.htm

Disease Injury Nutrition Poison ... Prevention Congenital cataract Alternative names: Cataract - congenital Definition: a cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Causes, incidence, and risk factors: Although there are many diseases and inherited disorders that can lead to congenital cataracts , the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified. This is a partial list of possible causes of congenital cataracts: galactosemia chondrodysplasia syndrome congenital rubella syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome Review Date: 6/6/01 Reviewed By: Edward B. Feinberg, M.D., M.P.H., Department of Ophthalmology, Boston University School of Medicine and Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network. The information provided herein should not be used for diagnosis or treatment of any medical condition. It is provided for your general information and is not a substitute for medical care or supervised medical treatment. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. adam.com is a founding member of Hi-Ethics

73. Arch Neurol -- Abstracts: Arneson Et Al. 39 (11): 713 An infant with clinical presentation of the cerebrohepatorenal syndrome (CHRS) of Zellweger was found to have increased plasma and urinary concentrations of http://archneur.ama-assn.org/cgi/content/abstract/39/11/713

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA For The Media Classified Ads Meetings Peer Review Congress Vol. 39 No. 11, November 1982 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 Arneson DW Ward JC Contact me when this article is cited Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome D. W. Arneson, R. E. Tipton and J. C. Ward An infant with clinical presentation of the cerebrohepatorenal syndrome (CHRS) of Zellweger was found to have increased plasma and urinary concentrations of pipecolic acid. When given a loading dose of DL-pipecolic acid hydrochloride, she showed a reduced clearance rate for that acid. Piperidine, delta 6-piperidine-2-carboxylic acid, and alpha-aminoadipic

74. Lukol Directory - Health Conditions And Diseases C Palsy (157). Cerebrocostomandibular Syndrome (2), cerebrohepatorenal syndrome (5), Cerebrotendinous Xanthomatosis (1). Cervical Cancer http://www.lukol.com/Top/Health/Conditions_and_Diseases/C/

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75. Human Protein: P56589 - Peroxisomal Assembly Protein PEX3 (Peroxin-3). EMBL Bioi DISEASE, Defects in PEX3 are a cause of Zellweger syndrome (ZS) MIM214100; also known as cerebrohepatorenal syndrome. ZS is an http://harvester.embl.de/harvester/P565/P56589.htm

Human protein: P56589 - Peroxisomal assembly protein PEX3 (Peroxin-3). EMBL FORUM Length: 373 aa , molecular weight: 42139 Da , CRC64 checksum: MLRSVWNFLK RHKKKCIFLG TVLGGVYILG KYGQKKIREI QEREAAEYIA QARRQYHFES 60 NQRTCNMTVL SMLPTLREAL MQQLNSESLT ALLKNRPSNK LEIWEDLKII SFTRSTVAVY 120 STCMLVVLLR VQLNIIGGYI YLDNAAVGKN GTTILAPPDV QQQYLSSIQH LLGDGLTELI 180 TVIKQAVQKV LGSVSLKHSL SLLDLEQKLK EIRNLVEQHK SSSWINKDGS KPLLCHYMMP 240 DEETPLAVQA CGLSPRDITT IKLLNETRDM LESPDFSTVL NTCLNRGFSR LLDNMAEFFR 300 PTEQDLQHGN SMNSLSSVSL PLAKIIPIVN GQIHSVCSET PSHFVQDLLT MEQVKDFAAN 360 VYEAFSTPQQ LEK 373 // UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 37, 15-DEC-1998 Sequence update Rel. 37, 15-DEC-1998 Annotation update Rel. 43, 29-MAR-2004 Description and origin of the Protein Description Peroxisomal assembly protein PEX3 (Peroxin-3). Gene name(s) Organism source Homo sapiens (Human).

76. Membrane_Group fibrosis, congenital hypercholesterolemia, cancer, muscular dystrophy, cardiovascular diseases, arteriosclerosis and cerebrohepatorenal syndrome, just to name http://www.membranegroup.ualberta.ca/WebPages/About.htm

CIHR MEMBRANE PROTEIN RESEARCH GROUP Home About Directory Facilities ... Contact The Molecular Biology of Membrane Proteins Research Group was established in 1991 within the Faculty of Medicine and Dentistry and with the support of a Group Grant from the Canadian Institutes of Health Research. In 2001 the Group merged with the Faculty's Membrane Transport Group to form the CIHR Membrane Protein Research Group. There are eleven faculty members in the Group (Drs. Carol Cass Joseph Casey Chris Cheesman Marek Duszyk ... Xing-Zhen Chen ) with appointments in the Departments of Biochemistry, Pediatrics, Oncology and Physiology. The role of our Group is to investigate membrane transporters of different molecules and ions, protein targeting and translocation across biological membrane, protein folding and the role of membrane associated proteins in control of cell growth and cellular communication. The Group has developed a core facility and a strong trainee program iin the area of structure and function of membrane proteins.

77. Terminology - Medical Transcription At Medword Cerebral cortex Cerebral fornix Cerebral hemispheres Cerebral palsy Cerebral ventricle Cerebritis cerebrohepatorenal syndrome Cerebrospinal fluid http://www.medword.com/medterms_cTEXT.html

78. Peroxisomal Beta-oxidation Enzyme Proteins In Adrenoleukodystrophy: Distinction acids, which accumulate in plasma and tissues in Xlinked adrenoleukodystrophy (ALD), neonatal ALD, and the Zellweger cerebrohepatorenal syndrome, are degraded http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=304443

79. C From Linkspider UK Health Directory Cerebrocostomandibular Syndrome; cerebrohepatorenal syndrome; Cerebrotendinous Xanthomatosis; Cervical Cancer; Cervical Dysplasia; Chagas http://linkspider.co.uk/Health/ConditionsandDiseases/C/

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80. C In Health > Conditions And Diseases Palsy@ (142); Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (1); Cervical http://ilectric.com/glance/Health/Conditions_and_Diseases/C/

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