Bie Sylvia (14 results)
- Softcover
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- Softcover
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Condition: 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: Jo…urnal 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. . . . .
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)
- Softcover
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Paperback. Condition: Brand New. reprint edition. 232 pages. 9.30x6.15x0.54 inches. In Stock.
- Softcover
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Condition: 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: Jo…urnal 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.
Language: English
Published by Kluwer Academic/Plenum Publishers, New York, 2003
Series: Book 102 of 544 - Advances in Experimental Medicine and Biology
- Hardcover
- First Edition
Seller: Row By Row Bookshop, Sugar Grove, NC, U.S.A.Row By Row Bookshop
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Hardcover. Condition: Good. No Dust Jacket. First Edition. An ex-library copy in original pictorial hard covers. The usual ex-libris markings. The binding is sound, the text is clean/unmarked, and there is little cover wear. No dust jacket, apparently as issued. Book.
- Softcover
Seller: AHA-BUCH GmbH, Einbeck, GermanyAHA-BUCH GmbH
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Taschenbuch. Condition: 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…syndrome, 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.
Peroxisomal Disorders and Regulation of Genes
Roels, Frank (EDT); Baes, Myriam (EDT); Delanghe, Sylvia (EDT); De Bie, Sylvia (EDT)
Language: English
Published by Springer, 2003
Series: Book 102 of 544 - Advances in Experimental Medicine and Biology
- Hardcover
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Peroxisomal Disorders and Regulation of Genes
Roels, Frank (EDT); Baes, Myriam (EDT); Delanghe, Sylvia (EDT); De Bie, Sylvia (EDT)
Language: English
Published by Springer, 2003
Series: Book 102 of 544 - Advances in Experimental Medicine and Biology
- Hardcover
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Peroxisomal Disorders and Regulation of Genes
Roels, Frank (EDT); Baes, Myriam (EDT); Delanghe, Sylvia (EDT); De Bie, Sylvia (EDT)
Language: English
Published by Springer, 2003
Series: Book 102 of 544 - Advances in Experimental Medicine and Biology
- Hardcover
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Peroxisomal Disorders and Regulation of Genes
Roels, Frank (EDT); Baes, Myriam (EDT); Delanghe, Sylvia (EDT); De Bie, Sylvia (EDT)
Language: English
Published by Springer, 2003
Series: Book 102 of 544 - Advances in Experimental Medicine and Biology
- Hardcover
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- Softcover
- Print on Demand
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Taschenbuch. Condition: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -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 in…clude Zellweger syndrome, 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. 236 pp. Englisch.
Diagnosis of human peroxisomal disorders
Roels, Frank|De Bie, Sylvia|Schutgens, R. B. H.|Besley, G. T. N.
- Softcover
- Print on Demand
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Kartoniert / Broschiert. Condition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. 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 syndro.
- Softcover
- Print on Demand
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Taschenbuch. Condition: Neu. This item is printed on demand - Print on Demand Titel. Neuware -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 includ…e Zellweger syndrome, 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.Springer-Verlag KG, Sachsenplatz 4-6, 1201 Wien 236 pp. Englisch.
