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Inborn Metabolic Diseases Diagnosis and Treatment /

Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases - Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians,...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Fernandes, John (Editor ), Saudubray, Jean-Marie (Editor ), Berghe, Georges van den (Editor ), Walter, John H. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2006.
Edición:4th ed. 2006.
Temas:
Acceso en línea:Texto Completo
Tabla de Contenidos:
  • Diagnosis and Treatment: General Principles
  • A Clinical Approach to Inherited Metabolic Diseases
  • Newborn Screening for Inborn Errors of Metabolism
  • Diagnostic Procedures: Function Tests and Postmortem Protocol
  • Emergency Treatments
  • Treatment: Present Status and New Trends
  • Disorders of Carbohydrate Metabolism
  • The 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
  • 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
  • Disorders of Amino Acid Metabolism and Transport
  • Hyperphenylalaninaemia
  • 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: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
  • Vitamin-Responsive Disorders
  • Biotin-Responsive Disorders
  • Disorders of Cobalamin and Folate Transport and Metabolism
  • Neurotransmitter and Small Peptide Disorders
  • Disorders of Neurotransmission
  • Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
  • Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
  • Disorders of Lipid and Bile Acid Metabolism
  • Dyslipidemias
  • Disorders of Cholesterol Synthesis
  • Disorders of Bile Acid Synthesis
  • Disorders of Nucleic Acid and Heme Metabolism
  • Disorders of Purine and Pyrimidine Metabolism
  • Disorders of Heme Biosynthesis
  • Disorders of Metal Transport
  • Disorders in the Transport of Copper, Zinc and Magnesium
  • Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
  • Disorders of Sphingolipid Metabolism
  • Mucopolysaccharidoses and Oligosaccharidoses
  • Peroxisomal Disorders
  • Congenital Disorders of Glycosylation
  • Cystinosis
  • Primary Hyperoxalurias.