Titlebook: Laboratory Guide to the Methods in Biochemical Genetics; Nenad Blau,Marinius Duran,K. Michael Gibson Book 20081st edition Springer-Verlag

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Mitochondrial Respiratory Chain,mitochondria in a number of cellular processes. This chapter reviews our present knowledge on the clinical presentations associated with primary mitochondrial dysfunctions. It then described the major hallmarks which can be studied in patients at risk, including clinical indications and metabolites

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Mucopolysaccharides, enzymes result in accumulation of GAGs in tissue and urine. All mucopolysaccharidoses (MPS) represent chronic, progressive disorders which exhibit a wide variety of clinical manifestations, from skeletal abnormalities to intellectual impairment. Diagnosis should be based on firm clinical observatio

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