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
Extractions: 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
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/
Extractions: 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
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
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
Intrinsic Aetiology cerebrohepatorenal syndrome / Zellweger syndrome an autosomal recessive disorder characterized by craniofacial abnormalities, hypotonia, hepatomegaly http://xoomer.virgilio.it/medicine/intrinsicaetiology.htm
Extractions: 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
Extractions: Cytomegalovirus Alternative Langauges: Danish Dutch German Spanish CONDITIONS AND DISEASES CONDITIONS AND DISEASES Band Name: Jane Kumada Genre: Pop About Band: JANE KUMADA, Italian-Japanese singer-songwriter/piano player with emotional songs and haunting voice, her music goes for a direct hit into your soul... www.janekumada.com www.sublimeproductions.com... Influences: Toto, Tori Amos View Band page: Jane Kumada The largest human edited directory on the net. Submit Site ODP Editors V ... Tickets
Extractions: 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.
Extractions: 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 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.
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
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
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
Extractions: 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. 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. The Arc (a national organization on mental retardation)
