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Kapsa, R, Thompson, GN, Thorburn, DR, Dahl, HH, Marzuki, S, Byrne, E, Blok, RB.
A novel mtDNA deletion in an infant with Pearson syndrome..
J Inherit Metab Dis
17(5)
:
521 -526
1994
view publication
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Takakubo, F, Thorburn, DR, Dahl, HH.
A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1)..
Hum Mol Genet
2(11)
:
1961 -1962
1993
view publication
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MacPhee, GB, Logan, RW, Mitchell, JS, Howells, DW, Tsotsis, E, Thorburn, DR.
Malonyl coenzyme A decarboxylase deficiency..
Arch Dis Child
69(4)
:
433 -436
1993
view publication
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Takakubo, F, Thorburn, DR, Dahl, HH.
A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1)..
Hum Mol Genet
2(4)
:
473 -474
1993
view publication
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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