Roe CR - Search Results

1

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Pedersen CB, et al. Among authors: roe cr, roe ds. Pediatr Res. 2006 Sep;60(3):315-20. doi: 10.1203/01.pdr.0000233085.72522.04. Epub 2006 Jul 20. Pediatr Res. 2006. PMID: 16857760

2

Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.

Van Hove JL, Kahler SG, Millington DS, Roe DS, Chace DH, Heales SJ, Roe CR. Van Hove JL, et al. Among authors: roe ds, roe cr. Pediatr Res. 1994 Jan;35(1):96-101. doi: 10.1203/00006450-199401000-00020. Pediatr Res. 1994. PMID: 8134205

3

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N. Corydon MJ, et al. Pediatr Res. 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. Pediatr Res. 2001. PMID: 11134486

4

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA. Roe CR, et al. Pediatr Res. 1985 May;19(5):459-66. doi: 10.1203/00006450-198505000-00011. Pediatr Res. 1985. PMID: 4000772

5

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Vianey-Saban C, Bross P, Divry P, Roe CR, Nada MA, Knudsen I, Gregersen N. Andresen BS, et al. Among authors: roe cr. J Inherit Metab Dis. 1996;19(2):169-72. doi: 10.1007/BF01799421. J Inherit Metab Dis. 1996. PMID: 8739957 No abstract available.

6

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N. Andresen BS, et al. Among authors: roe cr. Hum Mol Genet. 1996 Apr;5(4):461-72. doi: 10.1093/hmg/5.4.461. Hum Mol Genet. 1996. PMID: 8845838

7

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.

Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J. Gibson KM, et al. Among authors: roe cr, roe ds. Pediatr Res. 2000 Jun;47(6):830-3. doi: 10.1203/00006450-200006000-00025. Pediatr Res. 2000. PMID: 10832746

8

Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts.

Roe CR, Roe DS. Roe CR, et al. Among authors: roe ds. Methods Enzymol. 2000;324:424-31. doi: 10.1016/s0076-6879(00)24251-1. Methods Enzymol. 2000. PMID: 10989450 No abstract available.

9

Quantitative assay of free and total carnitine using tandem mass spectrometry.

Kodo N, Millington DS, Norwood DL, Roe CR. Kodo N, et al. Among authors: roe cr. Clin Chim Acta. 1990 Jan 31;186(3):383-90. doi: 10.1016/0009-8981(90)90324-l. Clin Chim Acta. 1990. PMID: 2311263

10

Recent developments in the investigation of inherited metabolic disorders using cultured human cells.

Roe CR, Roe DS. Roe CR, et al. Among authors: roe ds. Mol Genet Metab. 1999 Oct;68(2):243-57. doi: 10.1006/mgme.1999.2911. Mol Genet Metab. 1999. PMID: 10527676 Review.

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