Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

The greatest dif?culty in life is to make knowledge effective, to convert it into practical wisdom. Sir William Osler. The inborn errors of metabolism, as a group of metabolic diseases, are re- tively rare and are sometimes called "orphan diseases. " As a group, they account for about 1 in...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Blau, Nenad (Editor ), Hoffmann, Georg F. (Editor ), Leonard, J.V (Editor ), Clarke, Joe T. R. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2006.
Edición:1st ed. 2006.
Temas:
Diseases.
Pediatrics.
Medical genetics.
Internal medicine.
Pathology.
Family medicine.
Medical Genetics.
Internal Medicine.
General Practice and Family Medicine.
Acceso en línea:Texto Completo
Tabla de Contenidos:
  • Emergency Management of Metabolic Diseases
  • The Role of Communication in the Treatment of Inborn Metabolic Diseases
  • Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
  • Disorders of Neurotransmission
  • Disorders of GABA, Glycine, Serine, and Proline
  • Disorders of Tyrosine Degradation
  • Disorders of Histidine Metabolism
  • Disorders of Leucine Metabolism
  • Disorders of Valine-Isoleucine Metabolism
  • Various Organic Acidurias
  • Disorders of the ?-Glutamyl Cycle
  • Disorders of Sulfur Amino Acid Metabolism
  • Inherited Hyperammonaemias
  • Disorders of Ornithine, Lysine, and Tryptophan
  • Defective Transcellular Transport of Amino Acids
  • Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism
  • Disorders of Carbohydrate and Glycogen Metabolism
  • Disorders of Glucose Transport
  • Disorders of Glycerol Metabolism
  • The Mucopolysaccharidoses
  • Oligosaccharidoses and Related Disorders
  • Congenital Disorders of Glycosylation
  • Cystinosis
  • Other Storage Disorders
  • Inborn Errors of Purine and Pyrimidine Metabolism
  • Disorders of Creatine Metabolism
  • Peroxisomal Disorders
  • Hyperoxaluria
  • Mitochondrial Energy Metabolism
  • Genetic Dyslipoproteinemias
  • Disorders of Steroid Synthesis and Metabolism
  • Inborn Errors of Cholesterol Biosynthesis
  • The Porphyrias
  • Disorders of Bile Acid Synthesis
  • Disorders of Copper, Zinc, and Iron Metabolism
  • Leukotrienes
  • Hyperinsulinism of Infancy
  • Other Metabolic Disorders.

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