Inborn metabolic diseases: diagnosis and treatment
The diagnosis of metabolic diseases is facilitated by this clinical book. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The figures illustrate the metabolic derangement...
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| Weitere Verfasser: | , , , , |
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| Dokumenttyp: | Book/Monograph |
| Sprache: | Englisch |
| Veröffentlicht: |
Berlin, Heidelberg s.l.
Springer Berlin Heidelberg Imprint: Springer
1995
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| Ausgabe: | Second Edition |
| Volumes / Articles: | Show Volumes / Articles. |
| DOI: | 10.1007/978-3-662-03147-6 |
| Online-Zugang: | Resolving-System, lizenzpflichtig, Volltext: http://dx.doi.org/10.1007/978-3-662-03147-6
|
| Verfasserangaben: | edited by John Fernandes, Jean-Marie Saudubray, Georges Berghe, K. Tada, N. R. M. Buist |
MARC
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| 245 | 0 | 0 | |a Inborn metabolic diseases |b diagnosis and treatment |c edited by John Fernandes, Jean-Marie Saudubray, Georges Berghe, K. Tada, N. R. M. Buist |
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| 505 | 8 | |a I Diagnosis and Treatment: General Principles1 Clinical Approach to Inherited Metabolic Diseases -- 2 Diagnostic Procedures: Function Tests and Postmortem Protocol -- 3 Emergency Treatments -- 4 Psychosocial Care of the Child and Family -- II Carbohydrate Metabolism -- 5 Glycogen Storage Diseases -- 6 Disorders of Galactose Metabolism -- 7 Disorders of Fructose Metabolism -- 8 Disorders of Gluconeogenesis -- III Mitochondrial Energy Metabolism -- 9 The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle -- 10 The Respiratory Chain -- 11 Disorders of Fatty Acid Oxidation -- IV Aminoacids -- 12 Hyperphenylalaninaemias -- 13 Tyrosine -- 14 Urea Cycle Disorders -- 15 Homocystinuria Due to Cystathionine ?-Synthase Deficiency and Related Disorders -- 16 Ornithine -- 17 Nonketotic Hyperglycinemia -- V Peptide Metabolism -- 18 Disorders of the Gamma Glutamyl Cycle -- 19 Disorders of Small Peptides -- VI Organic Acids -- 20 Branched-Chain Organic Acidurias -- 21 Ketolysis Defects -- 22 Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders -- VII Vitamin-Responsive Disorders -- 23 Biotin-Responsive Multiple Carboxylase Deficiency -- 24 Inherited Disorders of Cobalamin and Folate Absorption and Metabolism -- VIII Lipids -- 25 Dyslipidemias -- IX Nucleic Acids -- 26 Disorders of Purine and Pyrimidine Metabolism -- X Neurotransmitters -- 27 Disorders of Neurotransmitters -- XI Metals -- 28 Copper: Wilson and Menkes Diseases -- 29 Genetic Defects Related to Metals Other Than Copper -- XII Porphyrins and Herne -- 30 Porphyrias -- 31 Inborn Errors of Bile Acid Synthesis -- 32 Bilirubin -- XIII Membrane Transport -- 33 Alpha-l-Antitrypsin Deficiency -- 34 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance -- XIV Organelle Disorders: Lysosomes, Golgi and Pre-Golgi Systems, Peroxisomes -- 35 Sphingolipids -- 36 Mucopolysaccharides and Oligosaccharides -- 37 Cystinosis -- 38 Carbohydrate-Deficient Glycoprotein Syndromes -- 39 Peroxisomal Disorders -- 40 Oxalosis (Primary Hyperoxaluria) -- XV New Trends of Treatment -- 41 Liver Transplantation -- 42 Bone Marrow Transplantation -- 43 Somatic Gene Therapy. | |
| 520 | |a The diagnosis of metabolic diseases is facilitated by this clinical book. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The figures illustrate the metabolic derangement in a uniform way, thus affording clarification and better understanding of the treatment. The metabolic derangement is discribed in great detail, together with essential aspects of the genetics involved. The topics covered range from general aspects such as the clinical approach to metabolic diseases, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family to specific dicussions of new modes of treatment, including liver transplantation, bone marrow transplantation, and somatic gene therapy | ||
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