Thorburn DR - Search Results

1

Mitochondrial electron transport chain defect presenting as hypoglycemia.

Freckmann ML, Thorburn DR, Kirby DM, Kamath KR, Hammond J, Dennett X, Christodoulou J. Freckmann ML, et al. Among authors: thorburn dr. J Pediatr. 1997 Mar;130(3):431-6. doi: 10.1016/s0022-3476(97)70206-3. J Pediatr. 1997. PMID: 9063420

2

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Rahman S, et al. Among authors: thorburn dr. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. Ann Neurol. 1996. PMID: 8602753

3

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR. Ogle RF, et al. Among authors: thorburn dr. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864

4

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC. Yano S, et al. Among authors: thorburn dr. Eur J Pediatr. 1997 May;156(5):382-3. doi: 10.1007/s004310050619. Eur J Pediatr. 1997. PMID: 9177981

5

HIV-1 protein Vpr causes gross mitochondrial dysfunction in the yeast Saccharomyces cerevisiae.

Macreadie IG, Thorburn DR, Kirby DM, Castelli LA, de Rozario NL, Azad AA. Macreadie IG, et al. Among authors: thorburn dr. FEBS Lett. 1997 Jun 30;410(2-3):145-9. doi: 10.1016/s0014-5793(97)00542-5. FEBS Lett. 1997. PMID: 9237618 Free article.

6

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

Mowat D, Kirby DM, Kamath KR, Kan A, Thorburn DR, Christodoulou J. Mowat D, et al. Among authors: thorburn dr. J Pediatr. 1999 Mar;134(3):352-4. doi: 10.1016/s0022-3476(99)70463-4. J Pediatr. 1999. PMID: 10064675 Review.

7

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.

Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Neurology. 1999 Apr 12;52(6):1255-64. doi: 10.1212/wnl.52.6.1255. Neurology. 1999. PMID: 10214753

8

The molecular basis of malonyl-CoA decarboxylase deficiency.

FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. FitzPatrick DR, et al. Among authors: thorburn dr. Am J Hum Genet. 1999 Aug;65(2):318-26. doi: 10.1086/302492. Am J Hum Genet. 1999. PMID: 10417274 Free PMC article.

9

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR, DiMauro S. Bruno C, et al. Among authors: thorburn dr. J Pediatr. 1999 Aug;135(2 Pt 1):197-202. doi: 10.1016/s0022-3476(99)70022-3. J Pediatr. 1999. PMID: 10431114 Free article.

10

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Ann Neurol. 2000 Jul;48(1):102-4. Ann Neurol. 2000. PMID: 10894222

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