This is a physician's guide to laboratory methods for diagnosis of metabolic disease - normal valves, abnormal valves, biochemical pathways, clinical features, treatment - presented largely in the form of charts and diagrams. It will help them decide which tests to order and how to interpret them. The work should be of interest to paediatricians, lab scientists and geneticists.
Rezensionen / Stimmen
...this book contains a wealth of information and is to be recommended to all involved in the study of metabolic diseases. It provides an excellent reference source.
Journal of Inherited Metabolic Diseases
...practising chemical pathologists and clinical biochemists would find it helpful...a handy quick reference.
Bulletin of the Royal College of Pathologists.
Sprache
Verlagsort
Verlagsgruppe
Zielgruppe
Illustrationen
ISBN-13
978-0-412-57560-0 (9780412575600)
Copyright in bibliographic data is held by Nielsen Book Services Limited or its licensors: all rights reserved.
Schweitzer Klassifikation
Approach to diagnosis
Simple tests in urine and blood
Amino acid analysis
Organic acid analysis
Miscellaneous analyses
Disorders
Hyperphenylalaninemia
Disorders of neurotransmitter metabolism
GABA metabolism defects
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
Disorders of glycine and amino acids
Inherited hyperammonemia
Disorders of ornithine, lysine and tryptophan
Amino acid transport disorders
Disorders of mitochondrial B-oxidation of fatty acids
Disorders of carbohydrate and glycogen metabolism
Disorders of glycerol metabolism
Mucopolysaccaridoses
Oligosaccaridoses and related disorders
Lysosomal transport defects
Purine and pyrimidine disorders
Peroxisomal disorders
Hyperoxaluria
Mitochondrial energy metabolism
Genetic dyslipoproteinemias
Disorders of steroid metabolism.The porphyrias
Disorders of bile acid synthesis
Disorders of copper and zinc metabolism
Indexes
Disorders index
Signs and symptoms index
Tests index.
