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Physician's guide to the treatment and follow-up of metabolic diseases /

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Bibliographic Details
Other Authors: Blau, N. (Nenad), 1946-
Format: Book
Language:English
Published: Berlin : Springer, [2006]
Subjects:
Metabolic Diseases > therapy.
Metabolism, Inborn Errors > therapy.
Laboratory Techniques and Procedures.
Table of Contents:
  • Pt. I. Initial approaches
  • Emergency management of metabolic diseases
  • The role of communication in the treatment of inborn metabolic disease
  • Pt. II. Approach to treatment
  • Disorders of phenylalanine
  • 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 γ-gluamyl 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 glucose transport
  • Disorders of glycerol metabolism
  • The mucopolysaccharidoses
  • Oligosaccharidoses and related disorders
  • Congenital disorders of glycosylation
  • Cystinosis
  • Other storage disorders
  • Inborn errors of purineand pryrimidine metabolism
  • Disorders of creatine metabolism
  • Perozisomal disorders
  • Hyperoxaluria
  • Mitochondrial energy metabolism
  • Genetic dyslipoproteinemias
  • Disorders of steriod 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