Roe DS - Search Results

1

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

2

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Nguyen TV, et al. Among authors: roe ds. Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79. doi: 10.1016/s1096-7192(02)00152-x. Mol Genet Metab. 2002. PMID: 12359132

3

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

4

Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.

Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Roe CR, et al. Among authors: roe ds. Mol Genet Metab. 1998 Dec;65(4):264-71. doi: 10.1006/mgme.1998.2758. Mol Genet Metab. 1998. PMID: 9889013

5

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 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

6

Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.

Roe DS, Roe CR, Brivet M, Sweetman L. Roe DS, et al. Among authors: roe cr. Mol Genet Metab. 2000 Jan;69(1):69-75. doi: 10.1006/mgme.1999.2950. Mol Genet Metab. 2000. PMID: 10655160

7

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.

8

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.

9

Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.

Roe CR, Struys E, Kok RM, Roe DS, Harris RA, Jakobs C. Roe CR, et al. Among authors: roe ds. Mol Genet Metab. 1998 Sep;65(1):35-43. doi: 10.1006/mgme.1998.2737. Mol Genet Metab. 1998. PMID: 9787093

10

Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.

He G, Yang BZ, Roe DS, Teramoto R, Aleck K, Grebe TA, Roe CR, Ding JH. He G, et al. Among authors: roe ds, roe cr. Biochem Biophys Res Commun. 1999 Oct 22;264(2):483-7. doi: 10.1006/bbrc.1999.1411. Biochem Biophys Res Commun. 1999. PMID: 10529389

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