Roels frank (7 Ergebnisse)
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Zustand: New. In.
Diagnosis of human peroxisomal disorders: A handbook (Journal of Inherited Metabolic Disease)
Besley, G.T.N. (Editor) / Roels, Frank (Editor) / De Bie, Sylvia (Editor) / Schutgens, R.B.H. (Editor)
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Paperback. Zustand: Brand New. reprint edition. 232 pages. 9.30x6.15x0.54 inches. In Stock.
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Zustand: New. Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. This illustrative account of laboratory methods for the diagnosis of peroxisomal disorders methods should allow laboratories to introduce these methods into their repertoire. Editor(s): Roels, F. Series: Jour…nal of Inherited Metabolic Disease. Num Pages: 226 pages, 85 black & white illustrations, biography. BIC Classification: MJC; MJG. Category: (P) Professional & Vocational. Dimension: 235 x 155 x 13. Weight in Grams: 410. . 1997. Reprinted from the Journal of Inherited Metabolic . paperback. . . . . Books ship from the US and Ireland.
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. Since 1983, the metabolic defect in some 20 different peroxisomal disorders has been described. The best known conditions include Zellweger sy…ndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy and, in the most recent edition of The Metabolic and Molecular Basis Inherited Disease, edited by Scriver and colleagues, more than 100 pages are now devoted to the subject. Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal beta-oxidation pathway and dihydroxyacetone phosphate acyltransferase), immunodetection of peroxisomal (membrane) proteins and molecular analysis of mutant DNA. In order to encourage a greater awareness in this field and the diagnostic protocols required, an international course was organised in Gent, Belgium, in May 1994, on the clinical and biochemical diagnosis of peroxisomal disorders. A number of international experts in the field who provided intensive hands-on experience over 3.5 days, have now collected their course work and reviews together in this Handbook. The volume is introduced by Sidney Goldfischer, who in 1973 was the first to recognise the absence of peroxisomes in Zellweger syndrome, but whose observations were not fully appreciated for a further decade. This handbook provides the most comprehensive and detailed account of laboratory methods for the diagnosis of peroxisomal disorders. The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire. Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.
Sprache: Englisch
Verlag: Springer, 2012
Serie: Buch 102 von 544 - Advances in Experimental Medicine and Biology
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Zustand: New. In.
Sprache: Englisch
Verlag: Springer, 2003
Serie: Buch 102 von 544 - Advances in Experimental Medicine and Biology
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Anbieter: Ria Christie Collections, Uxbridge, Vereinigtes KönigreichRia Christie Collections
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Zustand: New. In.
Sprache: Englisch
Verlag: Springer US, Springer US, 2012
Serie: Buch 102 von 544 - Advances in Experimental Medicine and Biology
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Anbieter: AHA-BUCH GmbH, Einbeck, DeutschlandAHA-BUCH GmbH
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Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms… that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.
