-
Thorburn, DR, Smeitink, J.
Diagnosis of mitochondrial disorders: clinical and biochemical approach..
J Inherit Metab Dis
24(2)
:
312 -316
2001
view publication
-
Wittig, I, Augstein, P, Brown, GK, Fujii, T, Rötig, A, Rustin, P, Munnich, A, Seibel, P, Thorburn, D, Wissinger, B, et al.
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain..
J Inherit Metab Dis
24(1)
:
15 -27
2001
view publication
-
Thorburn, DR, Dahl, HH.
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options..
Am J Med Genet
106(1)
:
102 -114
2001
view publication
-
Dahl, HH, Thorburn, DR.
Mitochondrial diseases: beyond the magic circle..
Am J Med Genet
106(1)
:
1 -3
2001
view publication
-
Carpente, KH, Wilcken, B, Christodoulou, J, Thorburn, DR.
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis..
J Inherit Metab Dis
23(8)
:
845 -846
2000
view publication