Search Results - "ROE, Charles"

Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience by Roe, Charles R, Brunengraber, Henri

“…The treatment of long-chain mitochondrial β-oxidation disorders (LC-FOD) with a low fat-high carbohydrate diet, a diet rich in medium-even-chain triglycerides…”
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Anaplerotic triheptanoin diet enhances mitochondrial substrate use to remodel the metabolome and improve lifespan, motor function, and sociability in MeCP2-null mice by Park, Min Jung, Aja, Susan, Li, Qun, Degano, Alicia L, Penati, Judith, Zhuo, Justin, Roe, Charles R, Ronnett, Gabriele V

“…Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2)…”
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Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis by Marin-Valencia, Isaac, Roe, Charles R., Pascual, Juan M.

“…Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes…”
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Anaplerotic molecules: Current and future by Brunengraber, Henri, Roe, Charles R.

“…Summary This review presents the concepts of anaplerosis and cataplerosis in relation to the regulation of citric acid cycle operation. Anaplerosis is the…”
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Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D) by Málaga, Ignacio, Avila, Adrian, Primeaux, Sharon, Kallem, Raja Reddy, Roe, Charles R., Putnam, William C., Park, Jason Y., Shinnar, Shlomo, Ahn, Chul, Pascual, Juan M.

“…Augmentation of anaplerosis, or replenishment of carbon lost during intermediary metabolic transitions, is desirable in energy metabolism defects…”
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On stress-state dependent plasticity modeling: Significance of the hydrostatic stress, the third invariant of stress deviator and the non-associated flow rule by Gao, Xiaosheng, Zhang, Tingting, Zhou, Jun, Graham, Stephen M., Hayden, Matthew, Roe, Charles

“…It has been shown that the plastic response of many materials, including some metallic alloys, depends on the stress state. In this paper, we describe a…”
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A Study on the Effect of the Stress State on Ductile Fracture by Xiaosheng Gao, Guihua Zhang, Roe, Charles

“…The main purpose of this paper is to demonstrate that besides the stress triaxiality parameter, the Lode angle, which can be related to the third invariant of…”
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Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement by Pascual, Juan M, Liu, Peiying, Mao, Deng, Kelly, Dorothy I, Hernandez, Ana, Sheng, Min, Good, Levi B, Ma, Qian, Marin-Valencia, Isaac, Zhang, Xuchen, Park, Jason Y, Hynan, Linda S, Stavinoha, Peter, Roe, Charles R, Lu, Hanzhang

“…Disorders of brain metabolism are multiform in their mechanisms and manifestations, many of which remain insufficiently understood and are thus similarly…”
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The safety assessment of Pythium irregulare as a producer of biomass and eicosapentaenoic acid for use in dietary supplements and food ingredients by Wu, Lei, Roe, Charles L., Wen, Zhiyou

“…Polyunsaturated fatty acids, docosahexaenoic acid (DHA, 22:6, n-3), eicosapentaenoic acid (EPA, 20:5, n-3), and arachidonic acid (ARA, 20:4 n-6), have multiple…”
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Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential by Roe, Charles R., Mochel, Fanny

“…Summary Beginning with phenylketonuria, dietary therapy for inborn errors has focused primarily on the restriction of the precursor to an affected catabolic…”
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Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride by Roe, Charles R, Sweetman, Lawrence, Roe, Diane S, David, France, Brunengraber, Henri

“…The current dietary treatment of long-chain fatty acid oxidation defects (high carbohydrate with medium-even-chain triglycerides and reduced amounts of…”
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Effects of a flotation vest and water flow rate on limb kinematics of Siberian Huskies swimming against a current by Fisher, Corey J, Scott, Karen C, Reiter, Hayley K, Reid, Melissa A, Roe, Charles M, Colee, James C, Hill, Richard C

“…To evaluate the effects of a flotation vest (FV) and water flow rate (WFR) on limb kinematics of dogs swimming against a current. 7 (1 male and 6 female)…”
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Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation by Pascual, Juan M, Roe, Charles R

“…The physiological relevance of acid maltase (acid α-glucosidase, an enzyme that degrades lysosomal glycogen) is well recognized in liver and muscle. In late…”
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Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways by Roe, Charles R., Bottiglieri, Teodoro, Wallace, Mary, Arning, Erland, Martin, Alan

“…APBD is a rare disorder most often affecting adults of Ashkenazi Jewish origin due to partial deficiency of the glycogen brancher enzyme (GBE). It is…”
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Interrelations between C4 Ketogenesis, C5 Ketogenesis, and Anaplerosis in the Perfused Rat Liver by Deng, Shuang, Zhang, Guo-Fang, Kasumov, Takhar, Roe, Charles R., Brunengraber, Henri

“…We investigated the interrelations between C4 ketogenesis (production of β-hydroxybutyrate + acetoacetate), C5 ketogenesis (production of β-hydroxypentanoate +…”
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Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. II. Effects on lipolysis, glucose production, and liver acyl-CoA profile by Gu, Lei, Zhang, Guo-Fang, Kombu, Rajan S, Allen, Frederick, Kutz, Gerd, Brewer, Wolf-Ulrich, Roe, Charles R, Brunengraber, Henri

“…The anaplerotic odd-medium-chain triglyceride triheptanoin is used in clinical trials for the chronic dietary treatment of patients with long-chain fatty acid…”
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Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy by Mochel, Fanny, DeLonlay, Pascale, Touati, Guy, Brunengraber, Henri, Kinman, Renee P., Rabier, Daniel, Roe, Charles R., Saudubray, Jean-Marie

“…A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive…”
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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 by 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

“…We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in…”
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Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats by Kinman, Renée P, Kasumov, Takhar, Jobbins, Kathryn A, Thomas, Katherine R, Adams, Jillian E, Brunengraber, Lisa N, Kutz, Gerd, Brewer, Wolf-Ulrich, Roe, Charles R, Brunengraber, Henri

“…A new chronic treatment for inherited disorders of long-chain fatty acid oxidation involves administering up to one-third of dietary calories as triheptanoin,…”
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An investigation of the loading rate dependence of the Weibull stress parameters by Gao, Xiaosheng, Joyce, James A., Roe, Charles

“…This paper examines the dependence of the Weibull stress parameters on loading rate for a 22NiMoCr37 pressure vessel steel. Extensive fracture tests, including…”
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