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Volumn 79, Issue 4, 2008, Pages 448-450
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Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency
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Author keywords
[No Author keywords available]
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Indexed keywords
2 METHYLACYL COENZYME A RACEMASE;
ALKANOIC ACID;
PHENOBARBITAL;
PHYTANIC ACID;
PRISTANIC ACID;
UNCLASSIFIED DRUG;
ADULT;
AMINO ACID SUBSTITUTION;
ANAMNESIS;
ARTICLE;
BRAIN ANGIOGRAPHY;
BRAIN DISEASE;
CASE REPORT;
CEREBROSPINAL FLUID ANALYSIS;
CLINICAL FEATURE;
ELECTROENCEPHALOGRAM;
ENZYME DEFICIENCY;
FAMILY HISTORY;
FEMALE;
HUMAN;
HUMAN TISSUE;
MALE;
MASS FRAGMENTOGRAPHY;
MUSCLE BIOPSY;
NEUROLOGIC EXAMINATION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PHENOTYPIC VARIATION;
PHYSICAL EXAMINATION;
POINT MUTATION;
PRIORITY JOURNAL;
RECURRENT DISEASE;
SEQUENCE ANALYSIS;
SKIN FIBROBLAST;
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EID: 41149126674
PISSN: 00223050
EISSN: 1468330X
Source Type: Journal
DOI: 10.1136/jnnp.2007.129478 Document Type: Article |
Times cited : (33)
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References (9)
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