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NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
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The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders
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Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency
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Aminoacylase I deficiency: a new inborn error of metabolism located in the protein degradation pathway of N-acetylated proeteins
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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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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
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Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
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Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II