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leigh disease/carbohydrate
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4 resultados
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate.
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A 6-month-old female infant with hypotonia and keto and lactic acidosis was diagnosed with lipoamide dehydrogenase (E3) deficiency. This enzyme is a component of the pyruvate, alpha-ketoglutarate, and branched chain alpha-ketoacid dehydrogenase complexes. At the time of diagnosis her plasma
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.
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Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic
Histochemical methods for dissociated muscle fibers.
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Skeletal or cardiac muscle fibers can be separated by brief (3--5 second) dissociation of formalin-fixed pieces with a Willems Polytron (Brinkmann Instrument Co.). Such separated fibers are useful for demonstration of abnormal accumulations of lipids, carbohydrates, proteins and minerals in
Energy metabolism in disorders of the nervous system.
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"Energy metabolism" is deranged in a wide variety of disorders of the nervous system. This term refers rather loosely to the pathways responsible for the utilization of the major substrates of brain. Primary disorders of energy metabolism are those in which the primary insult affects the cellular
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