Biopsy Approach to the Study and Diagnosis of Inborn Errors of Metabolism Affecting the Brain
It may be stated that the discoveries of Sir Archibald Garrod at the turn of the century (1;2) and his coining of the term “inborn errors of metabolism” mark the beginning of the history of human biochemical genetics. Whereas since that time the number of diseases in this category and their biochemical basis has been growing steadily, the last two decades witnessed a true explosion of knowledge in this field, which has been also utilized in prenatal diagnosis, genetic counselling and attempts at suitable therapeutic measures.
KeywordsDown Syndrome Inborn Error Original Magnification Batten Disease Hepatic Mitochondrion
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