Cox RP - Search Results

1

Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects.

Chuang DT, Niu WL, Cox RP. Chuang DT, et al. Among authors: cox rp. Biochem J. 1981 Oct 15;200(1):59-67. doi: 10.1042/bj2000059. Biochem J. 1981. PMID: 6895847 Free PMC article.

2

A distinct variant of intermediate maple syrup urine disease.

Gonzalez-Rios MC, Chuang DT, Cox RP, Schmidt K, Knopf K, Packman S. Gonzalez-Rios MC, et al. Among authors: cox rp. Clin Genet. 1985 Feb;27(2):153-9. doi: 10.1111/j.1399-0004.1985.tb00203.x. Clin Genet. 1985. PMID: 3978850

3

Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

Chuang DT, Ku LS, Cox RP. Chuang DT, et al. Among authors: cox rp. Proc Natl Acad Sci U S A. 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300. Proc Natl Acad Sci U S A. 1982. PMID: 6954481 Free PMC article.

4

Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

Chuang DT, Ku LS, Kerr DS, Cox RP. Chuang DT, et al. Among authors: cox rp. Am J Hum Genet. 1982 May;34(3):416-24. Am J Hum Genet. 1982. PMID: 7081220 Free PMC article.

5

Biochemical basis of thiamin-responsive maple syrup urine disease.

Chuang DT, Ku LS, Cox RP. Chuang DT, et al. Among authors: cox rp. Trans Assoc Am Physicians. 1982;95:196-204. Trans Assoc Am Physicians. 1982. PMID: 7182976

6

Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.

Koyata H, Cox RP, Chuang DT. Koyata H, et al. Among authors: cox rp. Biochem J. 1993 Nov 1;295 ( Pt 3)(Pt 3):635-9. doi: 10.1042/bj2950635. Biochem J. 1993. PMID: 8240269 Free PMC article.

7

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

Fisher CR, Fisher CW, Chuang DT, Cox RP. Fisher CR, et al. Among authors: cox rp. Am J Hum Genet. 1991 Aug;49(2):429-34. Am J Hum Genet. 1991. PMID: 1867199 Free PMC article.

8

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

Fisher CR, Chuang JL, Cox RP, Fisher CW, Star RA, Chuang DT. Fisher CR, et al. Among authors: cox rp. J Clin Invest. 1991 Sep;88(3):1034-7. doi: 10.1172/JCI115363. J Clin Invest. 1991. PMID: 1885764 Free PMC article.

9

Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31.

Zneimer SM, Lau KS, Eddy RL, Shows TB, Chuang JL, Chuang DT, Cox RP. Zneimer SM, et al. Among authors: cox rp. Genomics. 1991 Jul;10(3):740-7. doi: 10.1016/0888-7543(91)90458-q. Genomics. 1991. PMID: 1889817

10

Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.

Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP. Chuang DT, et al. Among authors: cox rp. Mol Biol Med. 1991 Feb;8(1):49-63. Mol Biol Med. 1991. PMID: 1943690

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