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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
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Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
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Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
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Aminoacylase I deficiency: A novel inborn error of metabolism
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Ataxia oculomotor apraxia I
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Dominant inheritance of sialuria, an inborn error of feedback inhibition.
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Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.