|
rdf:type |
|
|
lifeskim:mentions |
|
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pubmed:issue |
2
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pubmed:dateCreated |
1993-11-23
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|
pubmed:abstractText |
We report the ultrastructural and biochemical alterations of muscle mitochondria in two girls with Rett syndrome. Our findings suggest the presence of an energy metabolism impairment the primary or secondary role of which in the pathogenesis of this syndrome cannot be defined at present.
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pubmed:language |
eng
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|
pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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|
pubmed:issn |
0387-7604
|
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pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
15
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
103-6
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pubmed:dateRevised |
2006-11-15
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|
pubmed:meshHeading |
pubmed-meshheading:8214327-Child, Preschool,
pubmed-meshheading:8214327-Citrate (si)-Synthase,
pubmed-meshheading:8214327-Electromyography,
pubmed-meshheading:8214327-Electron Transport Complex IV,
pubmed-meshheading:8214327-Energy Metabolism,
pubmed-meshheading:8214327-Female,
pubmed-meshheading:8214327-Humans,
pubmed-meshheading:8214327-Magnetic Resonance Imaging,
pubmed-meshheading:8214327-Mitochondria, Muscle,
pubmed-meshheading:8214327-Mitochondrial Encephalomyopathies,
pubmed-meshheading:8214327-Muscles,
pubmed-meshheading:8214327-NADH Dehydrogenase,
pubmed-meshheading:8214327-Neural Conduction,
pubmed-meshheading:8214327-Rett Syndrome,
pubmed-meshheading:8214327-Tomography, X-Ray Computed
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|
pubmed:articleTitle |
Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.
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|
pubmed:affiliation |
Institute of Neurological Sciences, University of Siena, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
