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Blok, RB, Gook, DA, Thorburn, DR, Dahl, HH.
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes..
Am J Hum Genet
60(6)
:
1495 -1501
1997
view publication
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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..
Eur J Pediatr
156(5)
:
382 -383
1997
view publication
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Pitt, JJ, Hawkins, R, Cleary, M, Eggington, M, Thorburn, DR, Warwick, L.
Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate..
J Inherit Metab Dis
20(1)
:
39 -42
1997
view publication
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Freckmann, ML, Thorburn, DR, Kirby, DM, Kamath, KR, Hammond, J, Dennett, X, Christodoulou, J.
Mitochondrial electron transport chain defect presenting as hypoglycemia..
J Pediatr
130(3)
:
431 -436
1997
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Ogle, RF, Christodoulou, J, Fagan, E, Blok, RB, Kirby, DM, Seller, KL, Dahl, HH, Thorburn, DR.
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin..
J Pediatr
130(1)
:
138 -145
1997
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