1 to 10 of 47 literature results

• Fatty acid oxidation disorders.

  Genetic disorders of mitochondrial fatty acid beta-oxidation have been recognized within the last 20 years as important causes of morbidity and mortal…

  Authors: Piero Rinaldo, Dietrich Matern, Michael J Bennett

  Source: Annual review of physiology. 2002

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• Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance.

  BACKGROUND & AIMS: Little is known about the role of mitochondrial beta-oxidation in development of nonalcoholic fatty liver disease (NAFLD). Mitochon…

  Authors: Jamal A Ibdah, Peter Perlegas, Yiwen Zhao, Jerry Angdisen, Hermina Borgerink, Melanie K Shadoan, Janice D Wagner, Dietrich Matern, Piero Rinaldo, J Mark Cline

  Source: Gastroenterology. 2005 May

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• Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

  BACKGROUND: Tyrosinemia type I (TYR 1) is a disorder causing early death if left untreated. Newborn screening (NBS) for this condition is problematic …

  Authors: Coleman Turgeon, Mark J Magera, Pierre Allard, Silvia Tortorelli, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Dietrich Matern

  Source: Clinical chemistry. 2008 Apr

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• Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

  BACKGROUND: Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs…

  Authors: Devin Oglesbee, Karen A Sanders, Jean M Lacey, Mark J Magera, Bruno Casetta, Kevin A Strauss, Silvia Tortorelli, Piero Rinaldo, Dietrich Matern

  Source: Clinical chemistry. 2008 Mar

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• Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.

  Recombinant adeno-associated viral vectors pseudotyped with serotype 5 and 8 capsids (AAV5 and AAV8) have been shown to be efficient gene transfer rea…

  Authors: Stuart G Beattie, Eric Goetzman, Thomas Conlon, Sean Germain, Glenn Walter, Martha Campbell-Thompson, Dietrich Matern, Jerry Vockley, Terence R Flotte

  Source: Human gene therapy. 2008 Jun

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• Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.

  Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketo…

  Authors: Prem S Shekhawat, Dietrich Matern, Arnold W Strauss

  Source: Pediatric research. 2005 May

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• Making the case for objective performance metrics in newborn screening by tandem mass spectrometry.

  The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of pe…

  Authors: Piero Rinaldo, Saba Zafari, Silvia Tortorelli, Dietrich Matern

  Source: Mental retardation and developmental disabilities research reviews. 2006

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• Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector.

  Mitochondrial beta-oxidation of fatty acids is required to meet physiologic energy requirements during illness and periods of fasting or physiologic s…

  Authors: Thomas J Conlon, Glenn Walter, Renius Owen, Travis Cossette, Kirsten Erger, Greg Gutierrez, Eric Goetzman, Dietrich Matern, Jerry Vockley, Terence R Flotte

  Source: Human gene therapy. 2006 Jan

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• A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

  Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in ma…

  Authors: Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C Huey, Jörn Oliver Sass, Steven D Edland, Barbara K Burton, Susan A Berry, René Santer, Sarah Grünert,…

  Source: American journal of human genetics. 2004 Dec

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• The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

  Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited disorder of mitochondrial fatty acid oxidation associated with variations in the …

  Authors: Christina B Pedersen, Steen Kølvraa, Agnete Kølvraa, Vibeke Stenbroen, Margrethe Kjeldsen, Regina Ensenauer, Ingrid Tein, Dietrich Matern, Piero Rinaldo, Christine Vianey-Saban,…

  Source: Human genetics. 2008 Aug

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