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The ubiquitous nature of mitochondria, the dual genetic control of the respiratory chain, and the peculiar rules of mitochondrial genetics contribute to explain the extraordinary clinical heterogeneity of disorders associated with defects of oxidative phosphorylation (mitochondrial...
Physicians have become accustomed to thinking of certain inborn errors of metabolism (eg, lysosomal, peroxisomal, and mitochondrial diseases) as being associated with specific subcellular organelles. In recent years, a family of disorders of N -glycosylation has been recognized, in which the...
Diagnostic testing for genetically determined metabolic disease has for many years relied heavily on the use of generalized screening tests that analyze groups of related compounds in easily accessible peripheral fluids such as plasma and urine. Organic acid profiles in urine and amino acid...
Development of acylcarnitine and amino acid profiling using tandem mass spectrometry, and its application for use with dried blood specimens collected on filter-paper cards, has introduced an innovative new technology for detecting inborn errors of fatty acid, organic acid, and amino acid...
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