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Laboratory Diagnosis of Inherited Metabolic Diseases
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Beskrivning
Biochemical genetic testing is a key laboratory medicine discipline for evaluating, diagnosing, and treating inherited metabolic diseases (IMDs). These tests are complex and specialized, and use a variety of specimens, including blood, urine, plasma, and cerebrospinal fluid. The tests evaluate enzyme activity, protein function, and metabolite levels, such as fatty acids, amino acids, and organic acids.
- Presents brief descriptions of metabolic diseases as a basis for understanding each disease mechanism
- Covers initial diagnostic markers, emphasizing the importance of biomarkers in disease monitoring and management
- Provides substantial updates to the "Genetics and Pathogenesis" sections to reflect new discoveries and insights over the past twelve years
- Includes two new chapters on "Disorders of Vitamins and Co-factors" and "Disorders of Trace Elements," offering detailed analysis of related disorders