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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
BACKGROUND: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two siblings with a complex, adult-onset phenotype; including peripheral neuropath...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3567975/ https://ncbi.nlm.nih.gov/pubmed/23286897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-1 |
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