Physician's guide to the laboratory diagnosis of metabolic diseases /
| Other Authors: | |
|---|---|
| Format: | Software eBook |
| Language: | English |
| Published: |
Berlin ; New York :
Springer,
[2003]
|
| Edition: | Second edition. |
| Subjects: |
Table of Contents:
- Simple tests in urine and blood
- Amino acid analysis
- Organic acid analysis
- Miscellaneous analyses
- Tandem mass spectrometry in clinical diagnosis
- Proton NMR spectroscopy of body fluids
- Disorders of phenylalanine and tetrahydrobiopterin metabolism
- Disorders of neurotransmitter metabolism
- 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 y-glutamyl cycle
- Disorders of sulfur amino acids
- Inherited hyperammonemias
- Disorders of ornithine, lysine and tryptophan
- Defective transcellular transport of amino acids
- Disorders of mitochondrial fatty acid oxidation
- 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
- Purine and pyrimidine disorders
- 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
- Other metabolic disorders