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Diagnostics in mitochondrial diseases: The need of collaboration between clinician and research laboratorie.
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High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.
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Denaturating high performance liquid chromatography, a rapid mutation screening technique for the entire mitochondrial genome.
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Isolated defects of mitochondrial ATP synthase: overview of 15 cases.
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Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
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High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.
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An infant with large amounts of several N-acetylated amino acids in the urine has aminoacylase 1 deficiency.
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Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Mippel-Mrenaunay syndrome
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A mitochondrial tRNA Aspartate mutation causing isolated mitochondrial myopathy
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Aminoacylase I deficiency: A novel inborn error of metabolism