Physician's guide to the laboratory diagnosis of metabolic diseases

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書誌事項

Physician's guide to the laboratory diagnosis of metabolic diseases

edited by Nenad Blau, Marinus Duran and Milan E. Blaskovics

Chapman & Hall Medical, 1996

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内容説明・目次

内容説明

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.

目次

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.

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