81. Human Protein: P56589 - Peroxisomal Biogenesis Factor 3 (Peroxin-3) (Peroxisomal Disease, defects in pex3 are a cause of zellweger syndrome (zs) mim214100;also known as cerebrohepatorenal syndrome. zs is an autosomal recessive http://harvester.embl.de/harvester/P565/P56589.htm

Human protein: P56589 - Peroxisomal biogenesis factor 3 (Peroxin-3) (Peroxisomal assembly protein PEX3). EMBL FORUM Length: 373 aa , molecular weight: 42140 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 // SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University Peroxisomal biogenesis factor 3 UniGene LocusLink OMIM GenAtlas ... Genome Browser Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data SwissProt Information SwissProt Accession No. Peroxisomal biogenesis factor 3 (Homo sapiens); 100% similarity over 373 a.a.

82. Current Opinion In Pediatrics - UserLogin The Zellweger spectrum ranges from the severe Zellweger cerebrohepatorenal syndromethrough the clinically less involved neonatal adrenoleukodystrophy http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-199912000-00017.htm

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83. Cataract@Everything2.com cerebrohepatorenal syndrome Trisomy 13 Conradi syndrome Ectodermal dysplasia MarinescoSjogren syndrome Note Sometimes, no cause can be identified. http://www.everything2.com/index.pl?node=cataract

84. Trefferliste cerebrohepatorenal syndrome (engl.) zerebrohepato-renales Syndrom;cerebrolysis (engl.) Zerebrolyse; cerebromacular degeneration (engl. http://www.gesundheit.de/roche/cgi-bin/search.pl?userInput=Cerebro

85. Peroxisomal Beta-oxidation Enzyme Proteins In Adrenoleukodystrophy: Distinction neonatal ALD, and the Zellweger cerebrohepatorenal syndrome, are degraded bythe peroxisomal betaoxidation pathway, consisting of acyl-CoA oxidase, http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/5742641.html

Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy : distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy .Very long chain fatty acids , which accumulate in plasma and tissues in X-linked adrenoleukodystrophy ALD ), neonatal ALD , and the Zellweger cerebrohepatorenal syndrome, are degraded by the peroxisomal beta-oxidation pathway, consisting of acyl-CoA oxidase, the bifunctional enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase, and beta-ketothiolase A marked deficiency of all three enzyme proteins was reported in livers from patients with the Zellweger syndrome, a disorder in which peroxisomes are decreased or absent. Peroxisomes are not as markedly decreased in neonatal ALD and appear normal in X-linked ALD. Immunoblot analysis of the peroxisomal beta-oxidation enzymes revealed an almost complete lack of the bifunctional enzyme in neonatal ALD liver, similar to the finding in Zellweger tissue. In contrast, acyl-CoA oxidase and

86. Pediatrics In Review -- Sign In Page These include Bloom syndrome, LEOPARD syndrome, ataxia telangectasia syndrome,and the cerebrohepatorenal syndrome. Enzyme defects in steroid synthesis (eg, http://pedsinreview.aappublications.org/cgi/content/full/22/9/309

HOME HELP CONTACT US SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription. If you have an individual print subscription to Pediatrics in Review , online access is included. Full Text Delayed Puberty Rosen and Foster Pediatrics in Review. This Article Full Text (PDF) Author Disclosures Rapid Responses: Submit a response ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Rosen, D. S. Articles by Foster, C. To view this item, select one of the options below: Sign In: Please use your AAP ID Number or Temporary Activation Code for your User Name. User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00

87. Medical Terminology - Medword Transcription palsy Cerebral ventricle Cerebritis cerebrohepatorenal syndrome Cerebrospinal fluid Cerebrospinal fluid (CSF) Cerebrovascular accident (CVA) http://www.medword.com/medterms_cTEXT.html

Medword Resources: Medical Terms: Text Page C To add this list to your word-processor's spell checker: START COPYING JUST BELOW HERE - - - - STOP COPYING JUST ABOVE HERE - - - - A B C D ... Medword Home Page Very Important: Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Allow Pop-Up Navigation Windows More Info Site Navigation Courses Home OnLine Digital Transcription Info Ergonomic Keyboards, Mice Foot Pedals Headsets Games Quizzes Surveys Links For Business Start-Up Medical Reference Books MT Resources Lists Practice Your Transcription Recorders Digital Tape TENS EMS Units Transcriber Machines WAVpedal PC Transcription Search Medword Online Store Ad Authentic WAVpedal Foot Pedal WAVpedal is the original system. PC playback of all popular digital voice recorder formats. Personal Edge Medical Transcription, Medical Coding, Medical Billing, Medical Terminology, and Medical Office Specialist courses. Click

88. Medical Terminology - Medword Transcription cerebrohepatorenal syndrome Cerebrospinal fluid Cerebrospinal fluid (CSF)Cerebrovascular accident (CVA) Cerebrovascular accident (CVA) prevention http://www.medword.com/medterms_c.html

Medword Reference: Medical Terms C Find on this page: These medical terms are in an alphabetized list including some medical phrases. This not a complete listing of course-just a sampling. Some examples of medical abbreviations, terms, diseases, syndromes, etc., are also sprinkled throughout the list. Medword provides this medical terms list in part so that those who are thinking of becoming a medical transcriptionist may see firsthand some of the terminology and phraseology used by MTs in their daily work. For those already performing medical transcription, the list is a good reference source. We have also complimented the medical terminology list with a text version for copying and adding to your medical spell-checking feature in your word processor if you wish. A B C D ... Z C (cytosine) C-peptide C-reactive protein (CRP) C-section C1 (cervical vertebra) C1-C7 (cervical vertebrae) C2 (cervical vertebra) C3 (cervical vertebra) C4 (cervical vertebra) C5 (cervical vertebra) C6 (cervical vertebra) C7 (cervical vertebra) CA 125 CABG (Coronary Artery Bypass Graft) Cachexia CAD Cadaver Cadaver wart Cadmium Caduceus Caecal Caecum Caenorhabditis elegans genome Caesarian section Caesarian section, lower segment

89. Hyperpipecolic Acidemia-hepatomegaly-mental Retardation-optic Dysplasia-progress This and cerebrohepatorenal syndrome of Zellweger share many common characteristics.Major Features, Head and neck Dysmorphic round facies, brachycephaly, http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome351.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome hyperpipecolic acidemia-hepatomegaly-mental retardation-optic dysplasia-progressive neurological disease syndrome Summary A rare syndrome of hepatomegaly, eye anomalies, and progressive deterioration of the central nervous system with increased levels of serum pipecolic acid. This and cerebrohepatorenal syndrome of Zellweger share many common characteristics. Major Features Head and neck: Dysmorphic round facies, brachycephaly, micrognathia, Eyes: Nystagmus, dysplastic optic discs, retinal changes, diminished visual acuity, and downslanting palpebral fissures. Hand and foot: Simian creases and persistence of fetal finger pads. Muscles: Hypotonia. Bones and joints: Osteoporosis Skin appendages: Sparse hair. Nervous system: Widespread demyelination in the central nervous system. Gastrointestinal system: Hepatomegaly. Biochemical and metabolic features: An inborn error of lysine metabolism associated with hyperpipecolicemia. Temporal features: Death in infancy.

90. Prep For USMLE Forums: Q2 1. cerebrohepatorenal syndrome(zellweger) 2.neonatal adrenoleukodystrophy3.infantile refsum disease 4.hyperpipecolatemia ..what is it, any idea roll http://www.prep4usmle.com/forum/thread/5879

Prep for USMLE Forums Log in Register Prep for USMLE Forums ... USMLE STEP 1 Forum By krsma Author Message krsma Senior Member Topics: 40 Posts: what are some of the functions of Peroxisomes? there are atlease 4 but try your best. Posted: Mar 11, 04 - 19:42 Junior Member Topics: 3 Posts: Peroxisomes are organelles that contain oxidative enzymes, some of its functions are: Breakdown (by oxidation) of excess fatty acids. Breakdown of hydrogen peroxide (H2O2), a potentially dangerous product of fatty-acid oxidation. Paicipates in the synthesis of cholesterol. Participates in the synthesis of bile acids. Participates in the synthesis of the lipids used to make myelin. Breakdown of excess purines (AMP, GMP) to uric acid :idea: i guess its also important to know the disorders associated with peroxisomes....can u name them? Posted: Mar 12, 04 - 04:26 asmi Senior Member Topics: 1044 Posts: 1. cerebrohepatorenal syndrome(zellweger) 2.neonatal adrenoleukodystrophy 3.infantile refsum disease 4.hyperpipecolatemia.....what is it, any idea :roll: Posted: Mar 12, 04 - 08:24

91. Health/Conditions And Diseases/C -- The Doctors Lounge(TM) Cerebrocostomandibular Syndrome@ 2; cerebrohepatorenal syndrome@ 4;Cerebrotendinous Xanthomatosis@ 1; Cervical Cancer@ 21; Cervical Dysplasia@ 7 http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/C/index.cgi

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92. Deafblindness cerebrohepatorenal syndrome (Zellweger s Symdrome) and its Relation to NeonatalAdrenoleukodystrophy Cohen et al. American Journal of Ophthalmology, http://www.pacifier.com/~mstephe/irddb.htm

DEAFBLINDNESS COMBINED HEARING AND VISUAL IMPAIRMENTS IN THE PEROXISOMAL BIOGENESIS DISORDERS One of the major effects of infantile Refsum Disease (as well as the other peroxisomal biogenesis disorders) is the combination of significant audiory and visual impairments. These sensory losses vary in severity from child to child, and these diseases do not necessarily lead to total deafness and/or total blindness. In fact, it is entirely possible that the child will retain some useful vision and hearing. However, in combination, these impairments of the distal senses cause serious developmental delay in the child; affecting cogntive and social development, orientation and mobility, and the acquistion of communication and language. The disabling condition caused by combined hearing and visual losses is deafblindness (or deaf-blindness, equally correct). A deafblind child cannot be thought of as blind and also deaf, nor as deaf and also blind. She is deafblind. Deafblindness is a unique disability; it has its own concepts and terminology, its own methods of assessment and education, and its own modes of communication which distinguish it from blindness and deafness understood separately. It is not a medical concept, the ophthalmologist and the audiologist observe within their respective spheres, and the strictly medical literature never refers to deafblindness. It's a developmental concept, and without it the nature of the disability cannot be understood.

93. Cerebrohepatorenal Syndrome - Definition Of Cerebrohepatorenal Syndrome In The M Multiple peroxisomal enzymatic deficiency disorders. A comparative of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy peroxisomal deficiencies in the cerebrohepatorenal syndrome of Zellweger http://medical-dictionary.thefreedictionary.com/cerebrohepatorenal syndrome

Domain='thefreedictionary.com' word='cerebrohepatorenal syndrome' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia cerebrohepatorenal syndrome 0.03 sec. Page tools Printer friendly Cite / link Email Feedback cer·e·bro·hep·a·to·re·nal syndrome (s r -br -h p -t -r n l, s -r br n. An inherited syndrome marked by hypotonia, incomplete myelinization of nervous tissue, craniofacial malformations, hepatomegaly, and small glomerular kidney cysts. Mentioned in No references found Medical browser Full browser cerebral sphingolipidosis cerebral tetanus cerebral vesicle cerebration ... cerebro- cerebrohepatorenal syndrome cerebroma cerebromalacia cerebromeningitis cerebronic acid ... Cerebro-spinal sclerosis cerebrohepatorenal syndrome Cerebroid Cerebrology cerebroma cerebromalacia ... cerebrospinal Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

94. Peroxisomal {beta} -oxidation Enzyme Proteins In Adrenoleukodystrophy: Distincti neonatal ALD, and the Zellweger cerebrohepatorenal syndrome, are degraded bythe peroxisomal ß oxidation pathway, consisting of acyl-CoA oxidase, http://www.pnas.org/cgi/content/abstract/84/5/1425

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Download to citation manager PubMed PubMed Citation Articles by Chen, W. W. Articles by Moser, H. W. March 1, 1987 Winston W. Chen, Paul A. Watkins, Takashi Osumi, Takashi Hashimoto, and Hugo W. Moser Current Issue Archives Online Submission Info for Authors ... Site Map

95. Genatlas Sheet cell other. REGULATION. VARIANT PATHOLOGY. corresponding disease(s).associated pathology, other, Zellweger cerebrohepatorenal syndrome. susceptibility http://www.dsi.univ-paris5.fr/genatlas/fiche1.php?symbol=ACOX2

96. Connexion Genatlas name, peroxisome biogenesis disorder 6,complementation group 3,includingZellweger cerebrohepatorenal syndrome ? and others http://www.dsi.univ-paris5.fr/genatlas/phenotype.php?symbol=PBD6

97. Entrez PubMed The eyes of three infants with cerebrohepatorenal disease (Zellweger s syndrome)who died demonstrat http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6

98. Link Directory - Finnish Information Center On Mental Retardation Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and http://www.saunalahti.fi/kup/engl/webs_z.html

Finnish Information Center on Mental Retardation English links A B C D ... Z Zellweger Syndrome ZELLWEGER SYNDROME; ZS, OMIM, Victor A. McKusick, Orest Hurko et al. 1q22, PXF to 1q23, FCER1G, MIM Gene map Chr.1, PEX10 to Chr.1, TMEM5, MIM Gene map 2p15, PEX13 to 2p13, ANXA4, MIM Gene map ... eMedicine - Peroxisomal Disorders Zerres syndrome Zerres syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Microcephaly syndactyly brachymesophalangy, Orphanet Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome? K Zerres et al, Journal of Medical Genetics, 1992 Zimmerman-Laband syndrome ZIMMERMANN-LABAND SYNDROME; ZLS, OMIM, Victor A. McKusick Laband Syndrome, NORD Laband Syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Zimmerman-Laband Syndrome: An Unusually Early Presentation in a Newborn Girl, Miroslav Dumiæ et al, the ... Hereditary Gingival Fibromatosis, Eastman Dental Institute for Oral Health Care Sciences, London Zinc Finger Protein 261 Zinc Finger Protein 261; ZNF261, OMIM, Moyra Smith

99. NEJM -- The Cerebrohepatorenal (Zellweger) Syndrome. Increased Levels And Impair Original Article from The New England Journal of Medicine Thecerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of 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 disorders1. 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.

100. Zellweger Syndrome Definition - Medical Dictionary Definitions Of Popular Medica Zellweger syndrome A genetic disorder, also called the cerebrohepatorenalsyndrome, characterized by the reduction or absence of peroxisomes (cell http://www.medterms.com/script/main/art.asp?articlekey=11570

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