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1 to 9 of 9 literature results
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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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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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Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
This report presents a case of mitochondrial respiratory chain deficiency in a neonate with elevated plasma lactate, hypotonia, developmental delay, a…
Authors: Devin Oglesbee, Debra Freedenberg, Karen A Kramer, Bambi D Anderson, Si Houn Hahn
Source: Pediatric neurology. 2006 Oct
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An overview of peroxisomal biogenesis disorders.
Authors: Devin Oglesbee
Source: Molecular genetics and metabolism. 2005 Apr
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Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
PURPOSE: Isobutyryl-CoA dehydrogenase deficiency is a defect in valine metabolism and was first reported in a child with cardiomyopathy, anemia, and s…
Authors: Devin Oglesbee, Miao He, Nilanjana Majumder, Jerry Vockley, Ayesha Ahmad, Brad Angle, Barbara Burton, Joel Charrow, Regina Ensenauer, Can H Ficicioglu,…
Source: Genetics in medicine : official journal of the American College of Medical Genetics. 2007 Feb
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Investigating mitochondrial redox potential with redox-sensitive green fluorescent protein indicators.
Current methods for determining ambient redox potential in cells are labor-intensive and generally require destruction of tissue. This precludes singl…
Authors: George T Hanson, Robert Aggeler, Devin Oglesbee, Mark Cannon, Roderick A Capaldi, Roger Y Tsien, S James Remington
Source: The Journal of biological chemistry. 2004 Mar 26
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The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
Defects of the NADH dehydrogenase complex are predominantly manifested in mitochondrial diseases and are significantly associated with the development…
Authors: James Murray, Bing Zhang, Steven W Taylor, Devin Oglesbee, Eoin Fahy, Michael F Marusich, Soumitra S Ghosh, Roderick A Capaldi
Source: The Journal of biological chemistry. 2003 Apr 18
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A replicating module as the unit of mitochondrial structure and functioning.
The mitochondrion within human cells in tissue culture is pleomorphic and highly dynamic. The organelle mass can exist as thousands of small ovoids or…
Authors: Roderick A Capaldi, Robert Aggeler, Robert Gilkerson, George Hanson, Michelle Knowles, Andrew Marcus, Daciana Margineantu, Michael Marusich, James Murray, Devin Oglesbee,…
Source: Biochimica et biophysica acta. 2002 Sep 10
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