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Hunter, M, Mackay, MT, Peters, H, Salemi, R, Thorburn, D. 401: Alpers Syndrome with POLG mutations: clinical, EEG and radiological features.
Journal of Clinical Neuroscience
15(3)
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341
2008
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Chinnery, P, Majamaa, K, Turnbull, D, Thorburn, D. Treatment for mitochondrial disorders.
cd004426
2006
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Chinnery, P, Majamaa, K, Thorburn, D, Turnbull, D. Treatment for mitochondrial myopathy.
2003
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Yano, S, Sweetman, L, Thorburn, DR, Mofidi, S, Williams, JC. A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.
European Journal of Pediatrics
156(5)
:
382 -383
1997
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Sexton, AC, Sahhar, M, Thorburn, DR, Metcalfe, SA. Impact of a Genetic Diagnosis of a Mitochondrial Disorder 5–17 Years After the Death of an Affected Child.
Journal of Genetic Counseling
17(3)
:
261 -273
2008
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