Extractions: AE Moser, I Singh, FR Brown, GI Solish, RI Kelley, PJ Benke, and HW Moser Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Moser, A. E. Moser, H. W. Medline 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.
Extractions: AE Moser, I Singh, FR Brown, GI Solish, RI Kelley, PJ Benke, and HW Moser Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Moser, A. E. Moser, H. W. Medline 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.
Leucodistrofie/REFSUM DISEASE RJA; Schram, AW; Heymans, HSA; Schutgens, RBH; van den Bosch, H.; Tager, JM Geneticheterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other http://www.peacelink.it/appeal/gianmarco/ix.html
Extractions: The biochemical abnormalities are not restricted to phytanic acid but also include accumulation of very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Deficiency of peroxisomes in hepatocytes and cultured skin fibroblasts is demonstrable (Wanders et al., 1990).
Single Gene Disorders Affecting The Kidney Lowe syndrome *309000, OCRL1, Xr. Lipid phosphatase. Zellweger syndrome, PEX(various), cerebrohepatorenal; components of peroxisome biogenesis. . . http://renux.dmed.ed.ac.uk/EdREN/Teachingbits/Singlegene.html
ZELLWEGER SYNDROME ZELLWEGER cerebrohepatorenal. syndrome Written and research by AlainaMagnani and Eliza Feindel. Zellweger syndrome is an extremely http://pages.framingham.k12.ma.us/fhssci/science/teachers/Slot/zellweger syn 2.h
Extractions: Zellweger Syndrome is an extremely rare congenital disorder that affects only infants. Zellweger Syndrome is a metabolic disorder. This syndrome is genetic and are hereditary, and is present at birth in those it effects even though the child may not show the symptoms at birth. THE CAUSE OF ZELLWEGER SYNDROME Zellweger Syndrome is defined as the absence of peroxisomes. Peroxisomes are a cell organelle containing enzymes that catalyze the production and breakdown of hydrogen peroxide. This enzyme, in the peroxisomes, breaks down the hydrogen peroxide on the brain cells, without this organelle the brain will have major defects. This eventually causes the cell to die from toxic levels of iron and copper. This coating over the cells which helps the body filter toxins, causes the cells inside the liver, kidneys and brain to release toxic materials. The nonexistence of peroxisomes then causes the iron and copper levels to be high in the blood. CATEGORIZATION Zellweger Syndrome can also be categorized in a group of genetic disorders called leukodystrophies. Leukodystrophie disorders are generally recognizable by the degeneration of the white matter of the brain, that affects the growth of myelin sheath, which is the fatty covering on nerve fibers in the brain. With the cells lacking this coating the cells can not absorb the toxins and slowly cease to function properly due to the overwhelming presence of toxins
Postgraduate Medicine: Genetic Counseling In Primary Care syndrome, such as SmithMagenis syndrome, which is caused by a deletion of the shortarm of chromosome 17, or cerebrohepatorenal (Zellweger) syndrome, which is http://www.postgradmed.com/issues/2000/03_00/facher.htm
Extractions: Jennifer J. Facher, MS; Nathaniel H. Robin, MD VOL 107 / NO 3 / MARCH 2000 / POSTGRADUATE MEDICINE CME learning objectives This page is best viewed with a browser that supports tables First in a series of articles on clinical genetics coordinated by Mary A. Curtis, MD, associate professor and director of clinical genetics, University of Arkansas for Medical Sciences, Little Rock. Preview : Clues to genetic disorders are often first discovered during routine healthcare visits. This can create a dilemma for both the physician and the patient about what to do next. Because human genetics is a rapidly advancing field, many physicians are wondering which elements of a patient's medical history warrant a visit to the genetics clinic and which should be simply watched. In this article, Ms Facher and Dr Robin answer specific questions that the primary care physician is likely to have or to be asked about the evolving science of genetic testing.
Arch Pediatr Adolesc Med -- Page Not Found A syndrome of multiple developmental defects including polycystic kidney diseaseand Peroxisomal and mitochondrial defects in the cerebrohepatorenal disease. http://archpedi.ama-assn.org/issues/v153n10/ffull/ppm9098-1b.html
Extractions: The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"
Medline Record 88257434 Title Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and otherinherited disorders with a generalized impairment of peroxisomal functions http://www.aeiveos.com/Aging/Authors/westerveld-a/88257434.html
Extractions: Title: Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. Author(s): Brul S; Westerveld A; Strijland A; Wanders RJ; Schram AW; Heymans HS; Schutgens RB; van den Bosch H; Tager JM Address: Laboratory of Biochemistry, University of Amsterdam, The Netherlands. Source: J Clin Invest 1988 Jun;81(6):1710-5 Abstract: Major Indexes: Minor Indexes: Reagent Names: Language: English
Service Page - Pathologie Information newsgroup. question to Orphanet. DISEASE Zellweger syndrome, Synonym(s) Cerebrohepatorenalsyndrome, CIM Q87.82, MIM 214100, Sign(s) of the disease (40), http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=912
VADA GEZONDHEID En ZIEKTE - HEALTH And DISEASE SelfInjurious Behavior. SYNDROOM van ZELLWEGER ZELLWEGER syndrome CEREBROHEPATORENALsyndrome. See also LEUKODYSTROFIE LEUKODYSTROPHY http://www.vada.nl/medisch/medzaz.htm
Extractions: Zaadcellen Johnsen score Zaadcel Links ... Sperm Cells Geslachtsdeterminatie en -differentiatie: Ductus Deferens Prostatic Health: Ductus Deferens Human Testis Spermatic Cord - Head of Epididymus - Efferent Ducts - Straight Tubule - Rete Testis - Seminiferous Tubule - Tunica Albuginea - Scrotal Cavity - Tail of Epididymus - Ductus Deferens - Body of Epididymus See also: IMPOTENTIE IMPOTENCE
Searchalot Directory For C Palsy (165); Cerebrocostomandibular syndrome (4); Cerebrohepatorenalsyndrome (5); Cerebrotendinous Xanthomatosis (5); Cervical Cancer http://www.searchalot.com/Top/Health/ConditionsandDiseases/C/
Extractions: Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases : C All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo!
C Website Results :: Linkspider UK Palsy@ (165); Cerebrocostomandibular syndrome@ (4); Cerebrohepatorenalsyndrome@ (5); Cerebrotendinous Xanthomatosis@ (5); Cervical http://www.linkspider.co.uk/Health/ConditionsandDiseases/C/
Extractions: Anzeige: Verdienen Sie Geld mit Ihren ungenutzten Domains! Welt English Health ... Conditions and Diseases : C A B C D E F G ... Eintrag in weiteren Suchmaschinen Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor In einigen Teilen modifizierte Version des DMOZ.
Open Directory - Health: Conditions And Diseases: C Palsy@ (164); Cerebrocostomandibular syndrome@ (4); Cerebrohepatorenalsyndrome@ (5); Cerebrotendinous Xanthomatosis@ (5); Cervical http://www.mptdo.com/Health/Conditions_and_Diseases/C/
Extractions: needs and parents with special needs children. Zellweger Syndrome is a rare form of leukodystrophy affecting infants, of which a reduction or abscence of peroxisomes in the cells of the liver, kidneys, and brain is characteristic. The major manifestations of Zellweger Syndrome include unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Infants with Zellweger Syndrome have the disease from birth, and it is usually fatal within six months. It can often be recognized at birth due to profound lack of muscle tone; some infants may be unable to move. Prenatal growth failure, despite a normal period of gestation, are another manifestation of Zellweger, along with unusual facial characteristics, mental retardation, the inability to suck and/or swallow, and liver enlargement. Less commonly there may be vision problems and congenital heart lesions. Jaundice and/or gastrointestinal bleeding due to deficiency of a coagulation factor in the blood can also occur. This There may also be abnormal bleeding that can be corrected by giving Vitamin K. Infections should be guarded against carefully to delay complications, as pneumonia or respiratory distress may develop if infections are not prevented or controlled.
Extractions: Leukodystrofie Leuko of ook wel leuco betekent wit . Dystrofie of ook wel dystrophia betekent degeneratie ( ziekelijke veranderingen in de cellen). Leukodystrofie : Een ziekelijke verandering van de witte stof. Myeline wordt de witte stof genoemd. Myeline : Myeline is een vetachtige stof die in de vorm van myeline of mergschede de neuriet isolerend omhult. Deze schede wordt omkleed door het neurilemma ( schede van Schwann). De myelineschede speelt een belangrijke rol bij de impulsgeleiding in de axon. De mergschede ontstaat op opmerkelijke wijze. Langs de embryonale zenuwvezel liggen bij zenuwvezels van het perifeer zenuwstelsel als een parelsnoer cellen van Schwann , die de vezel als het ware omhullen. De inwendige plooi van de celmembraan van de cel van Schwann, waarbinnen de zenuwvezel is gelegen, gaat enkele tientallen keren roteren, waardoor een rol van celmembranen om de vezel wordt gevormd. Elke rol vormt een segment van de mergschede. De segmenten grenzen aan elkaar, door een insnoering van Ranvier gescheiden. Bij elk segment hoort nog een
Stoornissen Van De Peroxisomale Biogenese 1 Zellweger syndrome ( Ziekte van Zellweger ). Synoniemen ZS; Cerebrohepatorenalsyndrome; CHR syndrome; ZWS. OMIM 214100. OMIM Clinical Synopsis. http://www.homepages.hetnet.nl/~b1beukema/ziekperoxi.html
Extractions: Peroxisomale ziekten Extra informatie: Peroxisomal fatty acid alpha- and beta oxidation in humans Extra informatie: e-medicine: Peroxisomal disorders Extra informatie: The peroxisome website Extra informatie: Molecular genetics of peroxisomal disorders Zellweger Syndrome ( Ziekte van Zellweger ) Synoniemen: ZS; Cerebrohepatorenal Syndrome; CHR Syndrome; ZWS. OMIM: OMIM: Clinical Synopsis Extra informatie: e-medicine: Peroxisomal disorders Extra informatie: The peroxisome website Pseudo Zellweger Syndrome ( Peroxisomal 3-oxoacyl CoA Thiolase Deficiency ) Deze stoornis is nu ondergebracht onder: D-Bifunctional protein Deficiency. D-Bifunctional protein deficiency Synoniemen voor deze stoornis zijn: Deficiency of 17- a beta-hydroxysteroid dehydrogenase IV; DBP deficiency; Peroxisomal bifunctional enzyme deficiency; PBFE deficiency. OMIM: OMIM Clinical Synopsis OMIM: a beta-hydroxysteroid dehydrogenase IV Extra informatie: e-medicine: Peroxisomal disorders Extra informatie: The peroxisome website Adrenoleukodystrophy, autosomal neonatal form ( neonatale adrenoleukodystrofie )
