1 to 10 of 39 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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• National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.

  BACKGROUND: Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tes…

  Authors: Dennis J Dietzen, Piero Rinaldo, Ronald J Whitley, William J Rhead, W Harry Hannon, Uttam C Garg, Stanley F Lo, Michael J Bennett

  Source: Clinical chemistry. 2009 Sep

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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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• 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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• 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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• 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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• Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

  Ethylmalonic encephalopathy (EE) is a devastating infantile metabolic disorder affecting the brain, gastrointestinal tract, and peripheral vessels. Hi…

  Authors: Valeria Tiranti, Pio D'Adamo, Egill Briem, Gianfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, Maria-Teresa Garcia-Silva, Brigitte Vollmer,…

  Source: American journal of human genetics. 2004 Feb

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• Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.

  BACKGROUND: Mitochondrial respiratory chain complex (RCC) disorders may occur as commonly as 1 in 8500 individuals. Because of the great variability o…

  Authors: Karen A Kramer, Devin Oglesbee, Stacy J Hartman, Joe Huey, Bambi Anderson, Mark J Magera, Dietrich Matern, Piero Rinaldo, Brian H Robinson, Jessie M Cameron,…

  Source: Clinical chemistry. 2005 Nov

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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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