D. Roe

发表

The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry

D. Millington, D. Chace, N. Terada, 1991 .

Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.

C. Roe, E. Struys, C. Vianey‐Saban, 2006, Molecular genetics and metabolism.

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

C. Roe, D. Roe, 1999, Molecular genetics and metabolism.

Carnitine palmitoyltransferase II deficiency

C. Roe, H. Brunengraber, D. Roe, 2008, Neurology.

Intravenous L-Carnitine and Acetyl-L-Carnitine in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Isovaleric Acidemia

S. Heales, D. Millington, C. Roe, 1994, Pediatric Research.

Automated analysis for free and short-chain acylcarnitine in plasma with a centrifugal analyzer.

D. Millington, N. Terada, D. Roe, 1992, Clinical chemistry.

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

S. Cederbaum, C. Roe, L. Sweetman, 1998, Molecular genetics and metabolism.

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.

C. Roe, C. Vianey‐Saban, D. Roe, 2001, Clinica chimica acta; international journal of clinical chemistry.

Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.

C. Roe, M. Brivet, B. Z. Yang, 2001, Molecular genetics and metabolism.

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

C. Roe, M. Brivet, L. Sweetman, 2000, Molecular genetics and metabolism.

Methylmalonic aciduria in pregnancy: a case report.

C. Roe, D. Roe, J. Iams, 1995, American journal of obstetrics and gynecology.

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.

C. Roe, H. Brunengraber, F. David, 2002, The Journal of clinical investigation.

Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts.

R. Wanders, R. Wanders, C. Roe, 1998, Journal of lipid research.

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

Robert A. Harris, R. Harris, C. Roe, 1998, Molecular genetics and metabolism.

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

J. Vockley, R. Steiner, R. Schutgens, 2000, Pediatric Research.

Fatty Acid Metabolism and Reye's Syndrome

D. Millington, C. Roe, D. Roe, 1993 .

Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders.

C. Roe, D. Roe, M. Wallace, 2007, Molecular genetics and metabolism.

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

D. Rabier, C. Roe, M. Brivet, 1998, Molecular genetics and metabolism.

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

J. Gargus, C. Roe, M. Bocian, 2003, Journal of Inherited Metabolic Disease.

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

S. Cederbaum, B. Andresen, J. Vockley, 2002, Molecular genetics and metabolism.

A novel mutation identified in carnitine palmitoyltransferase II deficiency.

C. Roe, B. Z. Yang, J. Ding, 1998, Molecular genetics and metabolism.

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

R. Wanders, B. Andresen, N. Gregersen, 2006, Pediatric Research.

Prenatal diagnosis of multiple acyl‐CoA dehydrogenase deficiency: association with elevated α‐fetoprotein and cystic renal changes

M. Lovell, C. Roe, F. Frerman, 2001, Prenatal diagnosis.

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

C. Roe, D. Roe, 2000, Methods in Enzymology.