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Now in its 5th edition, this is the standard text for identification and management of patients with inborn errors of metabolism. Updates include newly discovered disorders and a chapter … Plus…

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Inborn Metabolic Diseases: Diagnosis and Treatment - edition reliée, livre de poche

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Inborn Metabolic Diseases: Diagnosis and Treatment

Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What¿s new -          Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations -          Numerous updates on diagnostic procedures and treatment -          Newly discovered disorders. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

Informations détaillées sur le livre - Inborn Metabolic Diseases: Diagnosis and Treatment


EAN (ISBN-13): 9783642157196
ISBN (ISBN-10): 364215719X
Version reliée
Date de parution: 2012
Editeur: Springer
656 Pages
Poids: 1,573 kg
Langue: Englisch

Livre dans la base de données depuis 2009-09-14T20:03:26+02:00 (Zurich)
Page de détail modifiée en dernier sur 2023-08-23T12:04:14+02:00 (Zurich)
ISBN/EAN: 9783642157196

ISBN - Autres types d'écriture:
3-642-15719-X, 978-3-642-15719-6
Autres types d'écriture et termes associés:
Auteur du livre: van den berghe, george van den bergh, georges jean, john bergh, van den berg, georg walter, aubourg, marie
Titre du livre: the diagnosis and treatment diseases


Données de l'éditeur

Auteur: Jean-Marie Saudubray; Georges van den Berghe; John H. Walter
Titre: Inborn Metabolic Diseases - Diagnosis and Treatment
Editeur: Springer; Springer Berlin
660 Pages
Date de parution: 2011-11-23
Berlin; Heidelberg; DE
Imprimé / Fabriqué en
Poids: 1,633 kg
Langue: Anglais
197,94 € (DE)
203,49 € (AT)
203,50 CHF (CH)
Not available, publisher indicates OP

BB; Book; Hardcover, Softcover / Medizin/Klinische Fächer; Pädiatrie; Verstehen; Medizin, Gesundheit; disorders of metabolism; inborn errors of metabolism; neonatal screening; metabolic diseases; newborn screening; inherited metabolic diseases; B; Medicine; Pediatrics; Human Genetics; Endocrinology; Neurology; Genetik, Medizin; Endokrinologie; Neurologie und klinische Neurophysiologie; BB; BC; EA; BB

Part I: Diagnosis and Treatment: General Principles: Classification and clinical Approach to Inherited Metabolic Diseases in Pediatrics.- Clinical approach to Inherited Metabolic Diseases in Adulthood.- Newborn Screening for Inborn Errors of Metabolism.- Diagnostic Procedures and Postmortem Protocol.- Emergency Treatments.- Part II: Disorders of Carbohydrate Metabolism: Glycogen-Storage Diseases and Related Disorders.- Disorders of Galactose Metabolism.- Disorders of the Pentose Phosphate Pathway.- Disorders of Fructose Metabolism.- Persistent Hyperinsulinemic Hypoglycemia.- Disorders of Glucose Transport.- Part III: Disorders of Mitochondrial Energy Metabolism: Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways.- Disorders of Ketogenesis and Ketolysis.- Defects of the Respiratory Chain.- Creatine Deficiency Syndromes.- Part IV: Disorders of Amino Acid Metabolism and Transport: Hyperphenylalaninaemias.- Disorders of Tyrosine Metabolism.- Branched-Chain Organic Acidurias/Acidemias.- Disorders of the Urea Cycle and Related Enzymes.- Disorders of Sulfur Amino Acid Metabolism.- Disorders of Ornithine Metabolism.- Cerebral Organic Acid Disorders and other Disorders of Lysine Catabolism.- Nonketotic Hyperglycinemia (Glycine Encephalopathy).- Disorders of Proline and Serine Metabolism.- Transport Defects of Amino Acids at the Cell Membrane.- Part V : Vitamin-Responsive Disorders: Biotin-Responsive Multiple Carboxylase Deficiency.- Disorders of Cobalamin and Folate Transport and Metabolism.- Part VI: Neurotransmitter and Small Peptide Disorders: Disorders of Neurotransmission.- Disorders in the Metabolism of Glutathione and Imidazole Dipeptides.- Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency.- Part VII: Disorders of Lipid and Bile Acid Metabolism: Dyslipidemias.- Disorders of Cholesterol Synthesis.- Disorders of Bile Acid Synthesis.- Part VIII: Disorders of Nucleic Acid and Heme Metabolism: Disorders of Purine and Pyrimidine Metabolism.- Disorders of Heme Biosynthesis.- Part IX: Disorders of Metal Transport: Disorders in the Transport of Copper, Zinc and Magnesium.- Part X: Organelle-Related Disorders: Lysosomes, Peroxysomes, and Golgi and Pre-Golgi Systems: Disorders of Sphingolipid Metabolism and Ceroid lipofuscinosis.- Pompe Disease, Mucopolysaccharidoses, and Oligosacharidoses.- Peroxisomal Disorders.- Congenital Disorders of Glycosylation.- Cystinosis.

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