Petrova-Benedict R - Search Results

1

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH. Chun K, et al. Hum Mol Genet. 1993 Apr;2(4):449-54. doi: 10.1093/hmg/2.4.449. Hum Mol Genet. 1993. PMID: 8504306

2

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH. Chun K, et al. Am J Hum Genet. 1991 Aug;49(2):414-20. Am J Hum Genet. 1991. PMID: 1907799 Free PMC article.

3

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW. Robinson BH, et al. J Clin Invest. 1990 Jun;85(6):1821-4. doi: 10.1172/JCI114641. J Clin Invest. 1990. PMID: 2112155 Free PMC article.

4

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.

Robinson BH, MacMillan H, Petrova-Benedict R, Sherwood WG. Robinson BH, et al. J Pediatr. 1987 Oct;111(4):525-33. doi: 10.1016/s0022-3476(87)80112-9. J Pediatr. 1987. PMID: 3116190

5

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Chun K, et al. Among authors: petrova benedict r. Am J Hum Genet. 1995 Mar;56(3):558-69. Am J Hum Genet. 1995. PMID: 7887409 Free PMC article.

6

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, De Braekeleer M, Laframboise R, Gagné R, Robinson BH. Merante F, et al. Am J Hum Genet. 1993 Aug;53(2):481-7. Am J Hum Genet. 1993. PMID: 8392290 Free PMC article.

7

Fatal combined defects in mitochondrial multienzyme complexes in two siblings.

Robinson BH, Chow W, Petrova-Benedict R, Clarke JT, Van Allen MI, Becker LE, Boulton JE, Ragan I. Robinson BH, et al. Eur J Pediatr. 1992 May;151(5):347-52. doi: 10.1007/BF02113256. Eur J Pediatr. 1992. PMID: 1327797

8

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.

Robinson BH, Petrova-Benedict R, Buncic JR, Wallace DC. Robinson BH, et al. Biochem Med Metab Biol. 1992 Oct;48(2):122-6. doi: 10.1016/0885-4505(92)90056-5. Biochem Med Metab Biol. 1992. PMID: 1329873

9

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH. Tatuch Y, et al. Am J Hum Genet. 1992 Apr;50(4):852-8. Am J Hum Genet. 1992. PMID: 1550128 Free PMC article.

10

Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.

Robinson BH, Chun K, Mackay N, Otulakowski G, Petrova-Benedict R, Willard H. Robinson BH, et al. Ann N Y Acad Sci. 1989;573:337-46. doi: 10.1111/j.1749-6632.1989.tb15009.x. Ann N Y Acad Sci. 1989. PMID: 2634350 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

24 results

Search Page

Filters