-
Thorburn, DR, Thompson, GN, Howells, DW.
A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency..
J Inherit Metab Dis
16(6)
:
942 -949
1993
view publication
-
Matalon, R, Michaels, K, Kaul, R, Whitman, V, Rodriguez-Novo, J, Goodman, S, Thorburn, D.
Malonic aciduria and cardiomyopathy..
J Inherit Metab Dis
16(3)
:
571 -573
1993
view publication
-
Thorburn, DR, Rahman, J, Rahman, S.
Mitochondrial DNA-Associated Leigh Syndrome and NARP.
1993
view publication
-
Rahman, S, Thorburn, D.
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.
1993
view publication
-
Thorburn, DR, Beutler, E.
The loss of enzyme activity from erythroid cells during maturation..
307:
15 -27
1991
view publication