Abstract |
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Authors | Rosemary A Head, Ruth M Brown, Zarazuela Zolkipli, Raveen Shahdadpuri, Mary D King, Peter T Clayton, Garry K Brown |
Journal | Annals of neurology
(Ann Neurol)
Vol. 58
Issue 2
Pg. 234-41
(Aug 2005)
ISSN: 0364-5134 [Print] United States |
PMID | 16049940
(Publication Type: Case Reports, Comparative Study, Journal Article)
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Chemical References |
- Autoantigens
- Mitochondrial Proteins
- Glutamic Acid
- Phenylalanine
- DLAT protein, human
- Dihydrolipoyllysine-Residue Acetyltransferase
- Leucine
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Topics |
- Autoantigens
(genetics)
- Blotting, Western
(methods)
- Brain Chemistry
(genetics)
- Child
- DNA Mutational Analysis
(methods)
- Dihydrolipoyllysine-Residue Acetyltransferase
- Fibroblasts
(enzymology)
- Globus Pallidus
(pathology)
- Glutamic Acid
(genetics)
- Humans
- Leucine
(genetics)
- Magnetic Resonance Imaging
(methods)
- Male
- Mitochondrial Proteins
(deficiency, genetics)
- Mutation
- Phenylalanine
(genetics)
- Pyruvate Dehydrogenase Complex Deficiency Disease
(enzymology, genetics, pathology, therapy)
- Transfection
(methods)
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