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
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
Extractions: 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
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
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Extractions: 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)
Extractions: 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.
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
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
Extractions: 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.
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
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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
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
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 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.
