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Mitochondrial Enzyme Deficiency

A constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes.
National Institutes of Health

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Enzyme Deficiency

Papers overview

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2012
2012
Scyllo-Inositol detection in the human spinal cord
Introduction: Scyllo-Inositol (sI) is one of the stereoisomers of inositol consisting of six equivalent CH protons yielding a… 
2005
2005
In-vivo 3 T 1 H magnetic resonance spectroscopy of the brain reveals elevated scyllo-inositol in patients with mild Alzheimer ’ s disease
H. R. Griffith, C. C. Stewart, J. A. den Hollander, W. T. Evanochko, L. E. Harrell, E. Y. Zamrini, J. C. Brockington, D. C… 
1993
1993
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)
Since the original report by Luft et al (1962), mitochondrial disorders have been exclusively regarded as neuromuscular diseases… 
1993
1993
Physiological suppression of superoxide dismutase deficiency in yeast Saccharomyces cerevisiae.
Deficiency in superoxide dismutases results in pleiotropic effects including hypersensitivity to oxygen and amino acid auxotrophy… 
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