81. Pediatric Research -- Abstracts: Roscher Et Al. 19 (9): 930 The sequence of reactions involved in plasmalogen biosynthesis has been evaluated in cultured fibroblasts of patients with the cerebrohepatorenal syndrome. http://www.pedresearch.org/cgi/content/abstract/19/9/930

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Submit correspondence regarding this article Similar articles found in: Pediatric Research Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Roscher, A. Paltauf, F. Alert me when: new articles cite this article Download to Citation Manager ARTICLES The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection A Roscher, B Molzer, H Bernheimer, S Stockler, I Mutz and F Paltauf The sequence of reactions involved in plasmalogen biosynthesis has been evaluated in cultured fibroblasts of patients with the cerebrohepatorenal syndrome. A double-label, double-substrate incubation using [1-14C] hexadecanol and 1-0-[9', 10'- 3H]hexadecylglycerol was performed to monitor the relative rates of peroxisomal and microsomal biosynthesic steps. [14C] radioactivity associated with 1'-alkenyl groups of plasmalogens was found to be drastically reduced in fibroblasts of affected patients whereas [3H] incorporation was apparently normal. This finding is specific for

82. Syndrome Bloom syndrome Narrower Terms carpal tunnel syndrome Narrower Terms cerebrohepatorenal syndrome Narrower Terms Chediak Higashi syndrome Narrower Terms http://crisp.cit.nih.gov/Thesaurus/00007863.htm

Prev Term: syndecan Next Term: Synechococcus syndrome Used for: Alstrom syndrome Used for: Bardet Biedel syndrome Used for: Brachmann de Lange syndrome Used for: Cornelia de Lange syndrome Used for: de Lange syndrome Used for: dumping syndrome Used for: Eaton Lambert syndrome Used for: Joubert syndrome Used for: Kenny Caffey syndrome Used for: Lambert Eaton myasthenic syndrome Used for: Lambert Eaton syndrome Used for: LEOPARD syndrome Used for: MLS (Multiple Lentigines /LEOPARD syndrome) Used for: Multiple Lentigines Used for: Multiple Lentigines /LEOPARD syndrome Used for: myasthenic syndrome of Lambert Eaton Used for: Peutz Jeghers syndrome Used for: postgastrectomy syndrome Used for: postpericardiotomy syndrome Used for: Rabson Mendenhall syndrome Used for: Saethre Chotzen syndrome Used for: van der Woude syndrome See for: VDWS Broader Terms: disease /disorder Narrower Terms: adult respiratory distress syndrome Narrower Terms: AIDS Narrower Terms: Alport syndrome Narrower Terms: antiphospholipid syndrome Narrower Terms: Barretts esophagus Narrower Terms: Bartter's syndrome Narrower Terms: Behcet's syndrome Narrower Terms: Bloom syndrome Narrower Terms: carpal tunnel syndrome Narrower Terms: cerebrohepatorenal syndrome Narrower Terms: Chediak Higashi syndrome Narrower Terms: chronic fatigue syndrome Narrower Terms: congenital adrenal hyperplasia Narrower Terms: Conn's syndrome Narrower Terms: cri du chat syndrome Narrower Terms: Cushing's syndrome Narrower Terms: deToni Fanconi syndrome Narrower Terms: DiGeorge's syndrome Narrower Terms: Downs syndrome Narrower Terms:

83. Health, Conditions And Diseases: C Cerebrocostomandibular Syndrome@; cerebrohepatorenal syndrome@; Cerebrotendinous Xanthomatosis@; Cervical Cancer@; Cervical Dysplasia@; Chagas http://www.combose.com/Health/Conditions_and_Diseases/C/

Top Health Conditions and Diseases C ... Cytomegalovirus Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the Open Directory and has been modified and enhanced using our own technology. About ComboSE Download Combose Toolbar

84. Australian Leukodystrophy Support Group Inc Neonatal ALD is similar to the Zellweger cerebrohepatorenal syndrome, and may actually represent a milder variant of Zellweger. http://home.vicnet.net.au/~leuko/ald.html

85. GeneCard For ACOX2 acid intermediates and pristanic acid ,expressed in liver and extrahepatic tissues,about null activity in the Zellweger cerebrohepatorenal syndrome, Links to http://genecards.bcgsc.ca/cgi-bin/carddisp?ACOX2

86. Intrinsic Aetiology cerebrohepatorenal syndrome / Zellweger syndrome an autosomal recessive disorder characterized by craniofacial abnormalities, hypotonia, hepatomegaly http://xoomer.virgilio.it/medicine/intrinsicaetiology.htm

INTRINSIC AETIOLOGY Table of contents : aminoacidopathies collagen diseases / collagenopathies cancer syndromes clastogenias ... primary hyperlipidemias / familial hyperlipoproteinemias The major impact of the completion of the human genome sequence is the understanding of molecular pathophysiology of the different syndromes, from which etiologic therapy will derive. In fact every gene, when mutated, is a potential disease gene, and we end up the new concept of "reverse medicine" (the opposite of "reverse genetics"), by which we will derive new morbid entities and pathogenic pathways from the knowledge of the structure and function of every gene. Regardless of the strategy used, the ultimate validation relies on the finding of pathogenic mutations in the suspected gene. The catalog of monogenic ("Mendelian") diseases should be easily completed through simple computer interrogation ( in silico cloning). The major challenge today is to decipher the polygenic and multifactorial etiology of common diseases. Anyway apart from environmental influences, there are endogenous factors encrypted in the genome itself, such as modifying genes, or polymorphisms in both coding and non-coding sequences, and some so-called neutral alleles may modulate the expresion of a key protein : it is now clear that monogenic diseases, in which only one gene is affected by an etiological mutation, can no longer be considered as monofactorial disorders. Some genetic diseases do not follow a simple pattern of inheritance and exhibit

87. Wuup.de - /Health/Conditions_and_Diseases/C Abscess@; Cerebral Edema@; Cerebral Gigantism@; Cerebrocostomandibular Syndrome@; cerebrohepatorenal syndrome@; Cerebrotendinous Xanthomatosis http://wuup.de/index.php/Health/Conditions_and_Diseases/C

88. Netscape Search: Top > Health > Conditions And Diseases > C Syndrome@ (2). • cerebrohepatorenal syndrome@ (5). • Cerebrotendinous Xanthomatosis@ (4). • Cervical Cancer@ (21). • Charcot http://search.netscape.com/ns/browse?id=43345

89. I-une.com: Conditions And Diseases > C Cerebral Gigantism@ (); Cerebral Palsy@ (); Cerebrocostomandibular Syndrome@ (); cerebrohepatorenal syndrome@ (); Cerebrotendinous Xanthomatosis http://dir.i-une.com/Health/Conditions_and_Diseases/C/

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90. MizMoz Directory - Conditions And Diseases Conditions And Diseases Cerebral Edema (3) »Cerebral Gigantism (5) »Cerebral Palsy (143) »Cerebrocostomandibular Syndrome (2) »cerebrohepatorenal syndrome (5) »Cerebrotendinous http://www.mizmoz.com/dir/Health/Conditions_and_Diseases/C/

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91. Categorized Web Directory. International Internet Portal, Website Listings, List Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (2); Cervical Cancer@ (18); Cervical Dysplasia http://www.ad-free.net/dir/dirsearchf35b.html

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92. Syndrome, Cerebrohepatorenal - Medical Dictionary Definitions Of Popular Medical MedicineNet Home MedTerms medical dictionary AZ List syndrome, cerebrohepatorenal. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=15587

93. Smith-Lemli-Opitz Syndrome,Smith Lemli Opitz Syndrome,RSH Syndrome,Smith-Opitz-I the extreme hypotonia and liver disease of some severely affected infants has led to the suspicion of Zellweger (cerebrohepatorenal) syndrome or related http://www.icomm.ca/geneinfo/slo.htm

Smith-Lemli-Opitz Syndrome,Smith Lemli Opitz Syndrome,RSH Syndrome,Smith-Opitz-Inborn Syndrome,SLO,Smith Lemli Opitz Syndrome,RSH Syndrome Smith-Opitz-Inborn Syndrome,SLO For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Smith-Lemli-Opitz Syndrome also known as: SLO RSH Syndrome Smith-Opitz-Inborn Syndrome (as defined by the National Organization for Rare Disorders Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature. A Technical Article Smith-Lemli-Opitz Syndrome Richard I. Kelley, M.D., Ph.D. Introduction Smith-Lemli-Opitz syndrome (SLOS) is a well-known malformation syndrome with principal characteristics of psychomotor and growth retardation, cleft palate, hypospadias, postaxial polydactyly, and a distinctive craniofacial appearance consisting of microcephaly, ptosis, inner epicanthal folds, anteverted nares, and micrognathia. The first three cases of SLOS, all males with microcephaly and hypogenitalism, were described in 1964 (Smith et al. 1964) in three families with surnames beginning with R, S, and H, hence the designation by the original authors as the "RSH" syndrome.

94. NEJM -- The Cerebrohepatorenal (Zellweger) Syndrome. Increased Levels And Impair Original Article from The New England Journal of Medicine The cerebrohepatorenal (Zellweger) syndrome. The cerebrohepatorenal (Zellweger) syndrome. http://content.nejm.org/cgi/content/short/310/18/1141

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 310:1141-1146 May 3, 1984 Number 18 Next The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis AE Moser, I Singh, FR Brown, GI Solish, RI Kelley, PJ Benke, and HW Moser Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract This article has been cited by other articles: Furuya, T., Kessler, P., Jardim, A., Schnaufer, A., Crudder, C., Parsons, M. (2002). Glucose is toxic to glycosome-deficient trypanosomes. Proc. Natl. Acad. Sci. U. S. A. [Abstract] [Full Text] Martinez, M., Vazquez, E., Garcia-Silva, M T., Manzanares, J., Bertran, J. M, Castello, F., Mougan, I. (2000). Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders. Am. J. Clin. Nutr. [Abstract] [Full Text] Sandhir, R., Khan, M., Chahal, A., Singh, I. (1998). Localization of nervonic acid ß-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy. J. Lipid Res.

95. Articles On: Zeaxanthin, Zellweger, Cerebrohepatorenal, Syndrome, Zidovudine, AZ zeaxanthin in delaying chronic disease. J Nutr 2002;132518S524S. Zellweger (cerebrohepatorenal) syndrome. Martinez M, Vazquez E, Garcia http://www.chiroonline.net/old_LibaryZ.html

Buffalo Grove Chiropractic Center A  B  C  D  ... Z -Z- Zeaxanthin Mares-Perlman JA, Millen AE, Ficek TL, Hankinson SE. The body of evidence to support a protective role for lutein and zeaxanthin in delaying chronic disease. J Nutr 2002;132:518S-524S. Zellweger (Cerebrohepatorenal) Syndrome Martinez M, Vazquez E, Garcia-Silva MT, Manzanares J, Bertran JM, Castello F, Mougan I. Therapeutic effects of docosahexanoic acid ethyl ester in patients with generalized peroxisomal disorders. Am J Clin Nutr 2000;71:(suppl):376S-385S. Zidovudine (AZT) Garcia de la Asuncion J, Del Olmo ML, Sastre J, Millain A, Pellin A, Pallardo FV. AZT treatment induces molecular and ultrastructural oxidative damage to muscle mitochondria. J Clin Invest 1998;102:4-9. Zinc Anderson RA, Roussel AM, Zouari N, Mahjoub S, Matheau JM, Kerkeni A. Potential antioxidant effects of zinc and chromium supplementation in people with type 2 diabetes mellitus. J Am Coll Nutr 2001;20(3):212-218. DiSivestro RA. Zinc in relation to diabetes and oxidative disease. J Nutr 2000;130:1509S-1511S. Grahn BH, Paterson PG, Gottschall-Pass TG, Zhang Z.

96. îùøã äáøéàåú Autosomal recessive (MIM 214100) Two infants with the cerebrohepatorenal (Zellweger) syndrome in Karaite families were reported as well as another case of the http://www.health.gov.il/pages/default.asp?pageid=1253&parentid=1248&catid=146&m

97. Terminology - Medical Transcription At Medword tunnel syndrome, cartilage hair hypoplasia syndrome, cauda equina syndrome, cavernous sinus syndrome, cerebrohepatorenal syndrome, chromosome 4 short http://www.medword.com/medterms_sTEXT.html

98. Peroxisomal Organization In Normal And Cerebrohepatorenal (Zellweger) Syndrome F Proc Natl Acad Sci US A. 1985 October; 82 (19) 6556 6560 Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=391248

99. Zellweger Syndrome Zellweger syndrome is a rare hereditary disorder affecting infants. It is characterized by reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain. Unusual problems in http://www.peacehealth.org/kbase/nord/nord363.htm

var hwPrint=1;var hwDocHWID="nord363";var hwDocTitle="Zellweger Syndrome";var hwRank="1";var hwSectionHWID="nord363-Header";var hwSource="en-us6.1";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Zellweger Syndrome Important It is possible that the main title of the report Zellweger Syndrome 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 Bowen Syndrome Cerebrohepatorenal Syndrome Disorder Subdivisions None General Discussion Zellweger Syndrome is a rare hereditary disorder affecting infants. It is characterized by reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain. Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances are among the major manifestations of Zellweger Syndrome. Resources The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910

100. HONselect - Zellweger Syndrome syndrome http://www.hon.ch/HONselect/RareDiseases/C06.552.970.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Zellweger Syndrome - Cerebrohepatorenal Syndrome - Zellweger-Like Syndrome - Cerebro-Hepato-Renal Syndrome - Zellweger Disease - Zellweger's Syndrome - Cerebro Hepato Renal Syndrome Français: ZELLWEGER, SYNDROME - CEREBROHEPATORENAL, SYNDROME - SYNDROME CEREBROHEPATORENAL - SYNDROME ZELLWEGER Deutsch: Zellweger-Syndrom - Zellweger-Like-Syndrom - Zerebro-hepato-renales Syndrom - CHR-Syndrom Español: SINDROME DE ZELLWEGER - SINDROME CEREBROHEPATORRENAL - SINDROME SIMILAR A ZELLWEGER Português: SINDROME DE ZELLWEGER - SINDROME HEPATO-RENAL-CEREBRAL - SINDROME ZELLWEGER-SEMELHANTE HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C06.552.970.html Last modified: Wed Apr 28 2004

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