Cargando…

Inborn Metabolic Diseases Diagnosis and Treatment /

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particula...

Descripción completa

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Saudubray, Jean-Marie (Editor ), Baumgartner, Matthias R. (Editor ), Walter, John H. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2016.
Edición:6th ed. 2016.
Temas:
Acceso en línea:Texto Completo
Tabla de Contenidos:
  • Section I Diagnosis and Treatment: General Principles
  • Section II Disorders of Carbohydrate Metabolism
  • Section III Disorders of Mitochondrial Energy Metabolism
  • Section IV Disorders of Amino Acid Metabolism and Transport
  • Section V Vitamin-Responsive Disorders
  • Section VI Neurotransmitter and Small Peptide Disorders
  • Section VII Disorders of Lipid and Bile Acid Metabolism
  • Section VIII Disorders of Nucleic and Heme Metabolism
  • 35 Disorders of Purine and Pyrimidine Metabolism
  • 36 Disorders of Haem Biosynthesis
  • Section IX Disorders of Metal Transport
  • Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
  • Section XI Appendices.