61. 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 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 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.

62. NEJM -- The Cerebrohepatorenal (Zellweger) Syndrome. Increased Levels And Impair PreviousPrevious, Volume 31011411146, May 3, 1984, Number 18. NextNext. The cerebrohepatorenal (Zellweger) syndrome. Increased levels http://content.nejm.org/cgi/content/abstract/310/18/1141

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP 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 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.

63. Pontificia Universidad Católica De Chile. Facultad De Ciencias Biológicas. Man Translate this page Santos, MJ, JM Ojeda, J. Garrido, F. Leighton. Peroxisomal organization in normaland cerebrohepatorenal (Zellweger) syndrome fibroblasts. Proc. Natl. Acad. http://www.bio.puc.cl/profs/santos/

Profesores Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile Lista de profesores Página de inicio de la Facultad SANTOS Alcántara, Manuel Profesor Adjunto Licenciado en Medicina, U. de Chile, 1976. Médico-Cirujano, U. de Chile, 1977. Doctor en Ciencias Biológicas, mención Biología Celular y Molecular, P. U. Católica de Chile, 1986 Post-Doctorado: The Johns Hopkins University, Baltimore, USA, 1978-1979, The Rockefeller University, New York, USA, 1986-1989, Université René Descartes, Paris V, Francia, 1982 Especialización: Biología Celular y Genética Cursos: Impacto de la Manipulación Genética Humana, Genética General, Genética Médica. Fono oficina (56-2) 686 2835 Ubicación oficina/laboratorio: Facultad de Ciencias Biológicas, Portugal # 35, 2° Piso msantos@genes.bio.puc.cl

64. 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

a) Parametri Genetici delle Neuropatie Sensomotorie Ereditarie (HMSN) ix) MORBO DI REFSUM (REFSUM DISEASE) Alternative names : INFANTILE PHYTANIC ACID STORAGE DISEASE DESCRIPTION Patients with the infantile form of phytanic acid storage disease show both clinical and biochemical differences from patients with the classic form of Refsum disease. Features include early onset, mental retardation, minor facial dysmorphism, retinitis pigmentosa, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. 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). A relationship between the infantile form of Refsum disease (IRD) and Zellweger syndrome (ZWS) was suggested by the observations of Poulos et al. (1984) in 2 patients. In the infantile form of Refsum disease, as in Zellweger syndrome, peroxisomes are deficient and peroxisomal functions are impaired (Schram et al., 1986).

65. 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

66. 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

ZELLWEGER CEREBROHEPATORENAL SYNDROME Written and research by: Alaina Magnani and Eliza Feindel 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

67. 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

Genetic counseling in primary care What questions are patients likely to ask, and how should they be answered? Jennifer J. Facher, MS; Nathaniel H. Robin, MD VOL 107 / NO 3 / MARCH 2000 / POSTGRADUATE MEDICINE CME learning objectives To learn the role of genetic evaluations in patients with unexplained birth defects, developmental delays, mental retardation, or dysmorphic features To identify the issues that are important to address when ascertaining family medical histories and discussing concerns about them To understand the importance of open communication among the primary care physician, patient, and genetic professional 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. Facher JJ, Robin NH. Genetic counseling in primary care: what questions are patients likely to ask and how should they be answered? Postgrad Med 2000;107(3):59-66

68. 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

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69. 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

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: Acyltransferases [deficiency] Metabolism, Inborn Errors [genetics] Microbodies [enzymology] Minor Indexes: Acyltransferases [analysis] Adrenoleukodystrophy [genetics] Catalase [analysis] Cell Fusion Cell Line Centrifugation, Density Gradient Chondrodysplasia Punctata [genetics] Digitonin Fibroblasts Genetic Complementation Test Refsum's Disease [genetics] Syndrome Reagent Names: EC 1.11.1.6 (Catalase) EC 2.3. (Acyltransferases) EC 2.3.1.42 (dihydroxyacetone-phosphate acyltransferase) 11024-24-1 (Digitonin) Language: English Periodical Type: JOURNAL ARTICLE

70. 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

71. 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

VADA - GEZONDHEID en ZIEKTE HEALTH and DISEASE Z OPGELET - ATTENTION Patienten en leken die raadgevingen/adviezen/informatie zoeken via deze verzameling links wordt dringend geadviseerd de verzamelde informatie te bespreken met de (behandelend) arts/specialist/hulpverlener. Patients and lay persons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. ZAADBALKANKER TESTICULAR CANCER See also: ACCOLATE See also: TESTIKEL ZAADBAL TESTICLE Stichting Kernzaak (voor mannen met zaadbalkanker), Telefoon: 020 - 570 0545 Zaadbalkanker Kankerbestrijding: Zaadbalkanker Zaadbalkanker - Joop's verhaal IKA: Zaadbalkanker - Incidentie en sterfte ... Newsgroup: alt.support.cancer testicular ZAADCEL SPERM CELL See also: BEVRUCHTING INSEMINATIE INSEMINATION See also: SPERMA SPERM MANNELIJK ZAAD SEMEN Zaadcellen Johnsen score Zaadcel Links ... Sperm Cells ZAADLEIDER DUCTUS REFERENS 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 ZAADLOZING VOORTIJDIGE ZAADLOZING PREMATURE EJACULATION See also: IMPOTENTIE IMPOTENCE See also: SEXUELE PROBLEMEN SEXUAL DISORDERS Zaadlozing Dokterdokter: Zaadlozing - Pollutie - Pollutio nocturna - Natte droom Klaar is Kees - Een nieuwe visie op vroegtijdige zaadlozing ... Effe wachten.... Zaadlozing!

72. Diseases Database Disease, Symptom, Sign, Etc Alphabetical Index : Z Diseases Da Zafirlukast Zalcitabine Zaleplon Zanamivir Zellweger's syndrome see Cerebrohepatorenalsyndrome Zenker's diverticulum Zero gravity Zero order kinetics http://www.diseasesdatabase.com/sieve/disease_index_z.asp

Diseases Database [Previous page] [Search] [Index] [Feedback] Diseases Database disease, symptom, sign, etc alphabetical index : Z Zafirlukast Zalcitabine Zaleplon Zanamivir Zellweger's syndrome see Cerebrohepatorenal syndrome Zenker's diverticulum Zero gravity Zero order kinetics ... Zinc oxide Zinc sulfate see Zinc Zinsser-Engman-Cole syndrome see Dyskeratosis congenita Ziprasidone Zlotogora-Ogur syndrome see Rosselli-Gulienetti syndrome Zofenopril Zoledronate Zoledronic acid see Zoledronate Zollinger-Ellison syndrome Zolmitriptan Zolpidem ... Zunich neuroectodermal syndrome Zunich-Kaye syndrome see Zunich neuroectodermal syndrome Zygodactyly see Syndactyly type 1 Zygomycosis We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2003-03-31 00:51:44 Last major update: 14 Mar 2003

73. Zellweger('s) Syndrome http://www.bdid.com/zellweger.htm

HOME Zellweger('s) Syndrome (Cerebrohepatorenal [CHR] Syndrome) Short description of cell lines. Pathology: Zellweger syndrome Zellweger Syndrome Zellweger Zellweger Syndrome ... HOME

74. Searchalot Directory For C Palsy (165); Cerebrocostomandibular syndrome (4); Cerebrohepatorenalsyndrome (5); Cerebrotendinous Xanthomatosis (5); Cervical Cancer http://www.searchalot.com/Top/Health/ConditionsandDiseases/C/

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75. C Website Results :: Linkspider UK Palsy@ (165); Cerebrocostomandibular syndrome@ (4); Cerebrohepatorenalsyndrome@ (5); Cerebrotendinous Xanthomatosis@ (5); Cervical http://www.linkspider.co.uk/Health/ConditionsandDiseases/C/

C Websites from Linkspider UK Keyword: C Linkspider UK Directory C Search for Directory Tree: Top Health Conditions and Diseases : C (0) Add URL Advertise Here! Personalize Amazon ... Cytomegalovirus

76. Katalog :  : Health : Conditions_and_Diseases : C :  - Netz-Tipp.De Cerebral Palsy (*); Cerebrocostomandibular syndrome (*); Cerebrohepatorenalsyndrome (*); Cerebrotendinous Xanthomatosis (*); Cervical http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/C/

Katalog Suchmaschinen-Eintrag - kostenlos! (Anzeige) Web: Suche im ganzen Netz Spezial: Suche im Katalog Startseite Buchhandel Bibliothek Zeitung ... Suchmaschinen Kostenloser Newsletter. Bitte tragen Sie hier Ihre E-Mail-Adresse ein! Startseite Werbung Presse Rechtliches ... Impressum Partner: Voreintrag Ladezeit Link-Check Linkparade HTML-Check Startseite Welt Deutsch 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. Anzeige Sind die Domains xyz.de oder xyz.com wieder frei?

77. 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/

about dmoz add URL help the entire directory only in Conditions_and_Diseases/C Top Health Conditions and Diseases : C Description A B C D E F G ... Cytomegalovirus Conditions and Diseases " search on: All the Web AltaVista Google USENET Google ... Yahoo Last update: 10:58 PT, Monday, July 8, 2002 - edit bfjrio Angebotsseiten: Reisen erotik

78. EPEC - Educating Parents Of Extra-special Children - Zellweger Syndrome Zellweger syndrome. Zellweger disturbances. Infants with Zellweger syndromehave the disease from birth, and it is usually fatal within six months. http://www.epeconline.com/ZellwegerSyndrome.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Zellweger Syndrome 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.

79. Leukodystrofie 5 Ziekte van Zellweger ( Zellweger syndrome ). Synoniemen ZS; Cerebrohepatorenalsyndrome; CHR syndrome; ZWS. OMIM 214100. OMIM Clinical Synopsis. http://www.homepages.hetnet.nl/~b1beukema/leukodystrofie.html

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

80. 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

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 )

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