Inborn Metabolic Diseases

Diagnosis and Treatment

John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, John H. Walter (Herausgeber)

Buch | Hardcover

XXII, 561 Seiten

2006 | 4., th, rev. ed.
Springer Berlin (Verlag)
978-3-540-28783-4 (ISBN)

Infos

This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. This 4th edition has been thoroughly updated and revised. It now incorporates many new findings, and a new chapter has been added.

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This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.

Inhalt

Summary from the contents:
Diagnosis and Treatment: General Principles
Carbohydrate Metabolism
Mitochondrial Energy Metabolism
Aminoacids. Peptide Metabolism
Organic Acids
Vitamin-Responsive Disorders
Lipids
Nucleic Acids
Neurotransmitters. Metals
Porphyrins and Heme
Membrane Transport. Organelle Disorders: Lysosomes, Golgi and Pre-Golgi Systems, Peroxisomes
New Trends of Treatment
Subject Index

Produkt-Details

• Sprache: englisch
• Maße: 193 x 270 mm
• Gewicht: 1340 g
• Einbandart: gebunden
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete
• Schlagworte: inborn errors of metabolism • metabolic diseases • Stoffwechselkrankheiten
• ISBN-10: 3-540-28783-3 / 3540287833
• ISBN-13: 978-3-540-28783-4 / 9783540287834
• Zustand: Neuware