Thorburn DR - Search Results

1

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Parikh S, et al. Among authors: thorburn dr. J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25. J Med Genet. 2019. PMID: 30683676 Review.

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

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

5

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.

6

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

White SL, Collins VR, Wolfe R, Cleary MA, Shanske S, DiMauro S, Dahl HH, Thorburn DR. White SL, et al. Among authors: thorburn dr. Am J Hum Genet. 1999 Aug;65(2):474-82. doi: 10.1086/302488. Am J Hum Genet. 1999. PMID: 10417290 Free PMC article.

7

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl HM, Turnbull DM, Lightowlers RN, Howell N. Chinnery PF, et al. Among authors: thorburn dr. Trends Genet. 2000 Nov;16(11):500-5. doi: 10.1016/s0168-9525(00)02120-x. Trends Genet. 2000. PMID: 11074292

8

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

Carpente KH, Wilcken B, Christodoulou J, Thorburn DR. Carpente KH, et al. Among authors: thorburn dr. J Inherit Metab Dis. 2000 Dec;23(8):845-6. doi: 10.1023/a:1026721021233. J Inherit Metab Dis. 2000. PMID: 11196112 No abstract available.

9

Diagnosis of mitochondrial disorders: clinical and biochemical approach.

Thorburn DR, Smeitink J. Thorburn DR, et al. J Inherit Metab Dis. 2001 Apr;24(2):312-6. doi: 10.1023/a:1010347808082. J Inherit Metab Dis. 2001. PMID: 11405352

10

Mitochondrial diseases: beyond the magic circle.

Dahl HH, Thorburn DR. Dahl HH, et al. Among authors: thorburn dr. Am J Med Genet. 2001 Spring;106(1):1-3. doi: 10.1002/ajmg.1427. Am J Med Genet. 2001. PMID: 11579419 No abstract available.

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