Charles R. Roe - Publications, H-index & Citations

Charles R. Roe

university of texas system

51H指数

207论文数

8.7K被引数

收录论文 24

发表时间

Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D)

SCIENTIFIC REPORTS

IF3.9

2023-03-01

OAAI

Malaga, Ignacio; Avila, Adrian; Primeaux, Sharon; Kallem, Raja Reddy; Roe, Charles R.; Putnam, William C.; Park, Jason Y.; Shinnar, Shlomo; Ahn, Chul; Pascual, Juan M.

Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-12-01

OAAI

Roe, Charles R.; Brunengraber, Henri

Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways

MOLECULAR GENETICS AND METABOLISM

IF3.5

2010-10-01

PREAI

Roe, Charles R.; Bottiglieri, Teodoro; Wallace, Mary; Arning, Erland; Martin, Alan

Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2010-09-01

106

PREAI

Marin-Valencia, Isaac; Roe, Charles R.; Pascual, Juan M.

Interrelations between C4 Ketogenesis, C5 Ketogenesis, and Anaplerosis in the Perfused Rat Liver

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2009-10-01

OAAI

Deng, Shuang; Zhang, Guo-Fang; Kasumov, Takhar; Roe, Charles R.; Brunengraber, Henri

IGF-1 resistance is a reversible feature of late-onset acid maltase deficiency (AMD)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2009-02-01

PREAI

Roe, Charles; Arning, Erland; Bottiglieri, Teodoro; Reuser, Arnold

Carnitine palmitoyltransferase II deficiency - Successful anaplerotic diet therapy

NEUROLOGY

IF8.5

2008-07-22

OAAI

Roe, C. R.; Yang, B. -Z.; Brunengraber, H.; Roe, D. S.; Wallace, M.; Garritson, B. K.

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

MOLECULAR GENETICS AND METABOLISM

IF3.5

2008-02-01

PREAI

Tein, Ingrid; Elpeleg, Orly; Ben-Zeev, Bruria; Korman, Stanley H.; Lossos, Alexander; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Vockley, Jerry; Berry, Gerard T.; Lamhonwah, Anne-Marie; Matern, Dietrich; Roe, Charles R.; Gregersen, Niels

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

PEDIATRIC RESEARCH

IF3.1

2006-09-01

OAAI

Pedersen, Christina B.; Bischoff, Claus; Christensen, Ernst; Simonsen, Henrik; Lund, Allan M.; Young, Sarah P.; Koeberl, Dwight D.; Millington, David S.; Roe, Charles R.; Roe, Diane S.; Wanders, Ronald J. A.; Ruiter, Jos P. N.; Keppen, Laura D.; Stein, Quinn; Knudsen, Inga; Gregersen, Niels; Andresen, Brage S.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2006-01-01

PREAI

Roe, DS; Yang, BZ; Vianey-Saban, C; Struys, E; Sweetman, L; Roe, CR

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2005-04-01

112

PREAI

Mochel, F; DeLonlay, P; Touati, G; Brunengraber, H; Kinman, RP; Rabier, D; Roe, CR; Saudubray, JM

Characterization of the bidirectional promoter region between the human genes encoding VLCAD and PSD-95

GENOMICS

IF3

2003-12-01

PREAI

Zhang, LF; Ding, JH; Yang, BZ; He, GC; Roe, C

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

MOLECULAR GENETICS AND METABOLISM

IF3.5

2002-09-01

OAAI

Nguyen, TV; Andresen, BS; Corydon, TJ; Ghisla, S; Razik, NAE; Mohsen, AWA; Cederbaum, SD; Roe, DS; Roe, CR; Lench, NJ; Vockley, J

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

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2002-07-15

238

OAAI

Roe, CR; Sweetman, L; Roe, DS; David, F; Brunengraber, H

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

CLINICA CHIMICA ACTA

IF2.9

2001-10-01

PREAI

Roe, DS; Vianey-Saban, C; Sharma, S; Zabot, MT; Roe, CR

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2001-05-01

PREAI

Yang, BZ; Mallory, JM; Roe, DS; Brivet, M; Strobel, GD; Jones, KM; Ding, JH; Roe, CR

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

PEDIATRIC RESEARCH

IF3.1

2000-06-01

OAAI

Gibson, KM; Burlingame, TG; Hogema, B; Jakobs, C; Schutgens, RBH; Millington, D; Roe, CR; Roe, DS; Sweetman, L; Steiner, RD; Linck, L; Pohowalla, P; Sacks, M; Kiss, D; Rinaldo, P; Vockley, J

Identification of a novel mutation in patients with medium-chain Acyl-CoA dehydrogenase deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2000-03-01

PREAI

Yang, BZ; Ding, JH; Zhou, CC; Dimachkie, MM; Sweetman, L; Dasouki, MJ; Wilkinson, J; Roe, CR

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2000-01-03

OAAI

Nuoffer, JM; de Lonlay, P; Costa, C; Roe, CR; Chamoles, N; Brivet, M; Saudubray, JM