Publications by authors named "Lawrence Sweetman"

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Quantitative Organic Acids in Urine by Two-Dimensional Gas Chromatography-Time-of-Flight Mass Spectrometry (GCxGC-TOFMS).
Erland Arning, Paula Ashcraft, Jeanna Bennett-Firmin, Lawrence Sweetman

Methods Mol Biol· September 2022

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Low frequency of Fabry disease in patients with common heart disease.
Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R Benjamin, Jeffrey P Castelli, Lawrence Sweetman

Genet Med· July 2018

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Elevated d-2-hydroxyglutarate during colitis drives progression to colorectal cancer.
Jie Han, Dakota Jackson, Janette Holm, Kevin Turner, Paula Ashcraft, Lawrence Sweetman

Proc Natl Acad Sci U S A· January 2018

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Quantitative Organic Acids in Urine by Two Dimensional Gas Chromatography-Time of Flight Mass Spectrometry (GCxGC-TOFMS).
Lawrence Sweetman, Paula Ashcraft, Jeanna Bennett-Firmin

Methods Mol Biol· September 2016

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Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots.
Sabrina Forni, Phillip L Pearl, K Michael Gibson, Yuezhou Yu, Lawrence Sweetman

Mol Genet Metab· March 2014

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A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern.
Nicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, Pierre Allard, Orval A Mamer, Lawrence Sweetman

PLoS One· February 2014

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Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.
Raphael Schiffmann, Sabrina Forni, Caren Swift, Nastry Brignol, Xiaoyang Wu, Lawrence Sweetman

J Am Heart Assoc· February 2014

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Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.
Sabrina Forni, Phillip L Pearl, K Michael Gibson, Yuezhou Yu, Lawrence Sweetman

Mol Genet Metab· July 2013

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Triheptanoin in acute mouse seizure models.
Nicola K Thomas, Sarah Willis, Lawrence Sweetman, Karin Borges

Epilepsy Res· May 2012

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A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Laurie H Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M Enns, Lawrence Sweetman

PLoS One· April 2012

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Postprandial changes in plasma acylcarnitine concentrations as markers of fatty acid flux in overweight and obesity.
Maria A Ramos-Roman, Lawrence Sweetman, Maressa J Valdez, Elizabeth J Parks

Metabolism· February 2012

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Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice.
Brandon Durant, Sabrina Forni, Lawrence Sweetman, Nastry Brignol, Xing-Li Meng

J Lipid Res· September 2011

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Anticonvulsant effects of a triheptanoin diet in two mouse chronic seizure models.
Sarah Willis, James Stoll, Lawrence Sweetman, Karin Borges

Neurobiol Dis· December 2010

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Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.
Fanny Mochel, Sandrine Duteil, Cécilia Marelli, Céline Jauffret, Agnès Barles, Lawrence Sweetman

Eur J Hum Genet· September 2010

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Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis.
Sabrina Forni, Xiaowei Fu, Susan E Palmer, Lawrence Sweetman

Mol Genet Metab· September 2010

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Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3).
Sabrina Forni, Xiaowei Fu, Raphael Schiffmann, Lawrence Sweetman

Mol Genet Metab· May 2009

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Naming and counting disorders (conditions) included in newborn screening panels.
Lawrence Sweetman, David S Millington, Bradford L Therrell, W Harry Hannon, Bradley Popovich

Pediatrics· May 2006

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Increased anion gap metabolic acidosis as a result of 5-oxoproline (pyroglutamic acid): a role for acetaminophen.
Andrew Z Fenves, Haskell M Kirkpatrick, Viralkumar V Patel, Lawrence Sweetman, Michael Emmett

Clin J Am Soc Nephrol· May 2006

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Leaky beta-oxidation of a trans-fatty acid: incomplete beta-oxidation of elaidic acid is due to the accumulation of 5-trans-tetradecenoyl-CoA and its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine in the matrix of rat mitochondria.
Wenfeng Yu, Xiquan Liang, Regina E Ensenauer, Jerry Vockley, Lawrence Sweetman

J Biol Chem· December 2004

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Interaction between altered insulin and lipid metabolism in CEACAM1-inactive transgenic mice.
Tong Dai, George A Abou-Rjaily, Qusai Y Al-Share', Yan Yang, Mats A Fernström, Lawrence Sweetman

J Biol Chem· October 2004

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Clinical effects of L-carnitine supplementation on apnea and growth in very low birth weight infants.
Jonathan Whitfield, Twyala Smith, Heather Sollohub, Lawrence Sweetman, Charles R Roe

Pediatrics· March 2003

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Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.
Fernando Scaglia, Angela E Scheuerle, Jeffrey A Towbin, Dawna L Armstrong, Lawrence Sweetman

BMC Pediatr· December 2002

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Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.
Charles R Roe, Lawrence Sweetman, Diane S Roe, France David, Henri Brunengraber

J Clin Invest· July 2002

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