Cover Image

Inborn metabolic diseases: diagnosis and treatment

The diagnosis of metabolic diseases is facilitated by this clinical book. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The figures illustrate the metabolic derangement...

Full description

Saved in:
Bibliographic Details
Other Authors: Fernandes, John (Editor) , Saudubray, Jean-Marie (Editor) , Berghe, Georges (Editor) , Tada, K. (Editor) , Buist, N. R. M. (Editor)
Format: Book/Monograph
Language:English
Published: Berlin, Heidelberg s.l. Springer Berlin Heidelberg Imprint: Springer 1995
Edition:Second Edition
Volumes / Articles: Show Volumes / Articles.
DOI:10.1007/978-3-662-03147-6
Online Access:Resolving-System, lizenzpflichtig, Volltext: http://dx.doi.org/10.1007/978-3-662-03147-6
Get full text
Author Notes:edited by John Fernandes, Jean-Marie Saudubray, Georges Berghe, K. Tada, N. R. M. Buist
Table of Contents:
  • I Diagnosis and Treatment: General Principles1 Clinical Approach to Inherited Metabolic Diseases
  • 2 Diagnostic Procedures: Function Tests and Postmortem Protocol
  • 3 Emergency Treatments
  • 4 Psychosocial Care of the Child and Family
  • II Carbohydrate Metabolism
  • 5 Glycogen Storage Diseases
  • 6 Disorders of Galactose Metabolism
  • 7 Disorders of Fructose Metabolism
  • 8 Disorders of Gluconeogenesis
  • III Mitochondrial Energy Metabolism
  • 9 The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle
  • 10 The Respiratory Chain
  • 11 Disorders of Fatty Acid Oxidation
  • IV Aminoacids
  • 12 Hyperphenylalaninaemias
  • 13 Tyrosine
  • 14 Urea Cycle Disorders
  • 15 Homocystinuria Due to Cystathionine ?-Synthase Deficiency and Related Disorders
  • 16 Ornithine
  • 17 Nonketotic Hyperglycinemia
  • V Peptide Metabolism
  • 18 Disorders of the Gamma Glutamyl Cycle
  • 19 Disorders of Small Peptides
  • VI Organic Acids
  • 20 Branched-Chain Organic Acidurias
  • 21 Ketolysis Defects
  • 22 Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders
  • VII Vitamin-Responsive Disorders
  • 23 Biotin-Responsive Multiple Carboxylase Deficiency
  • 24 Inherited Disorders of Cobalamin and Folate Absorption and Metabolism
  • VIII Lipids
  • 25 Dyslipidemias
  • IX Nucleic Acids
  • 26 Disorders of Purine and Pyrimidine Metabolism
  • X Neurotransmitters
  • 27 Disorders of Neurotransmitters
  • XI Metals
  • 28 Copper: Wilson and Menkes Diseases
  • 29 Genetic Defects Related to Metals Other Than Copper
  • XII Porphyrins and Herne
  • 30 Porphyrias
  • 31 Inborn Errors of Bile Acid Synthesis
  • 32 Bilirubin
  • XIII Membrane Transport
  • 33 Alpha-l-Antitrypsin Deficiency
  • 34 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance
  • XIV Organelle Disorders: Lysosomes, Golgi and Pre-Golgi Systems, Peroxisomes
  • 35 Sphingolipids
  • 36 Mucopolysaccharides and Oligosaccharides
  • 37 Cystinosis
  • 38 Carbohydrate-Deficient Glycoprotein Syndromes
  • 39 Peroxisomal Disorders
  • 40 Oxalosis (Primary Hyperoxaluria)
  • XV New Trends of Treatment
  • 41 Liver Transplantation
  • 42 Bone Marrow Transplantation
  • 43 Somatic Gene Therapy.

Similar Items