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

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases edited by Nenad Blau, Georg F. Hoffmann, J.V. Leonard, Joe T. R. Clarke.

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 2,500 bir...

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Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Blau, Nenad (Editor), Hoffmann, Georg F. (Editor), Leonard, J.V (Editor), Clarke, Joe T. R. (Editor)
Format: eBook
Language:English
Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2006.
Edition:1st ed. 2006.
Series:Springer eBook Collection.
Subjects:
Metabolic diseases.
Pediatrics.
Human genetics.
Internal medicine.
Pathology.
General practice (Medicine).
Electronic resources (E-books)
Online Access:Click to view e-book
Holy Cross Note:Loaded electronically.
Electronic access restricted to members of the Holy Cross Community.
Table of Contents:
  • 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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