{"product_id":"9780792338550","title":"Diagnosis of human peroxisomal disorders: A handbook","description":"\u003ch1\u003eDiagnosis of human peroxisomal disorders: A handbook\u003c\/h1\u003e \u003ch2\u003eRoels, Frank; De Bie, Sylvia; Schutgens, R.B.H.; Besley, G.T.N.\u003c\/h2\u003e \u003cp\u003ePeroxisomal 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 syndrome,  rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy  and, in the most recent edition of \u003cem\u003eThe Metabolic and Molecular  Basis Inherited\u003c\/em\u003e \u003cem\u003eDisease\u003c\/em\u003e, edited by Scriver and colleagues,  more than 100 pages are now devoted to the subject. \u003cbr\u003e  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.  \u003cbr\u003e  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  \u003cem\u003eHandbook\u003c\/em\u003e. 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. \u003cbr\u003e  \u003cem\u003eAudience\u003c\/em\u003e: Paediatricians, neurologists, clinical biochemists,  pathologists, genetic counsellors, obstetricians, and GPs interested  in the recognition, diagnosis and prenatal prevention of peroxisomal  disorders.\u003c\/p\u003e \u003ch3\u003eDetails\u003c\/h3\u003e \u003cp\u003ePublished by: Springer\u003c\/p\u003e \u003cp\u003ePublication Date: 1997-01-31\u003c\/p\u003e \u003cp\u003eFormat: Paperback\u003c\/p\u003e \u003cp\u003eISBN-13: 9780792338550\u003c\/p\u003e \u003cp\u003eDOI: 10.1007\/978-94-011-9635-2\u003c\/p\u003e \u003cp\u003eDimensions: 235cm x155cm\u003c\/p\u003e \u003cp\u003ePages: 226\u003c\/p\u003e ","brand":"Springer Netherlands","offers":[{"title":"Default Title","offer_id":44341358592140,"sku":"9780792338550","price":49.49,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0710\/9545\/1788\/files\/9780792338550.jpg?v=1775790989","url":"https:\/\/lateknightbooks.com\/products\/9780792338550","provider":"Late Knight Books and Services, LLC","version":"1.0","type":"link"}