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adipic acid/asthenia

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ČlanciKliničkim ispitivanjimaPatenti
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[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].

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OBJECTIVE Glutaric aciduria type II, or multiple acyl-CoA dehydrogenase deficiency is an autosomal recessively inherited defect of mitochondrial energy metabolism. The authors report two cases of late-onset glutaric aciduria type II, and evaluate the procedures for the diagnosis and treatment of
We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation
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