Search Results - "Magera, Mark J."

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry by TURGEON, Coleman T, MAGERA, Mark J, CUTHBERT, Carla D, LOKEN, Perry R, GAVRILOV, Dimitar K, TORTORELLI, Silvia, RAYMOND, Kimiyo M, OGLESBEE, Devin, RINALDO, Piero, MATERN, Dietrich

“…Newborn screening (NBS) for inborn errors of propionate, methionine, and cobalamin metabolism relies on finding abnormal concentrations of methionine and…”
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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) by Oglesbee, Devin, Sanders, Karen A, Lacey, Jean M, Magera, Mark J, Casetta, Bruno, Strauss, Kevin A, Tortorelli, Silvia, Rinaldo, Piero, Matern, Dietrich

“…Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs) leucine,…”
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Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry by Lacey, Jean M, Minutti, Carla Z, Magera, Mark J, Tauscher, Angela L, Casetta, Bruno, McCann, Mark, Lymp, James, Hahn, Si Houn, Rinaldo, Piero, Matern, Dietrich

“…Newborn screening for congenital adrenal hyperplasia (CAH) involves measurement of 17alpha-hydroxyprogesterone (17-OHP), usually by immunoassay. Because this…”
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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia by Minutti, Carla Z., Lacey, Jean M., Magera, Mark J., Hahn, Si Houn, McCann, Mark, Schulze, Andreas, Cheillan, David, Dorche, Claude, Chace, Donald H., Lymp, James F., Zimmerman, Donald, Rinaldo, Piero, Matern, Dietrich

“…Congenital adrenal hyperplasia (CAH) is primarily caused by 21-hydroxylase deficiency and leads to an accumulation of 17-hydroxyprogesterone and reduced…”
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Method for the Determination of Total Homocysteine in Plasma and Urine by Stable Isotope Dilution and Electrospray Tandem Mass Spectrometry by Magera, Mark J, Lacey, Jean M, Casetta, Bruno, Rinaldo, Piero

“…Total homocysteine (tHcy) has emerged as an important independent risk factor for cardiovascular disease. Analytical methods are needed to accommodate the high…”
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Automated Spectrophotometric Analysis of Mitochondrial Respiratory Chain Complex Enzyme Activities in Cultured Skin Fibroblasts by Kramer, Karen A, Oglesbee, Devin, Hartman, Stacy J, Huey, Joe, Anderson, Bambi, Magera, Mark J, Matern, Dietrich, Rinaldo, Piero, Robinson, Brian H, Cameron, Jessie M, Hahn, Si Houn

“…Mitochondrial respiratory chain complex (RCC) disorders may occur as commonly as 1 in 8500 individuals. Because of the great variability of phenotypic…”
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Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots by Turgeon, Coleman, Magera, Mark J, Allard, Pierre, Tortorelli, Silvia, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Matern, Dietrich

“…Tyrosinemia type I (TYR 1) is a disorder causing early death if left untreated. Newborn screening (NBS) for this condition is problematic because determination…”
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Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy by Turgeon, Coleman T., Moser, Ann B., Mørkrid, Lars, Magera, Mark J., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia

“…Pre-symptomatic hematopoietic stem cell transplantation is essential to achieve best possible outcomes for patients with the childhood cerebral form of…”
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Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease by Turgeon, Coleman T., Orsini, Joseph J., Sanders, Karen A., Magera, Mark J., Langan, Thomas J., Escolar, Maria L., Duffner, Patricia, Oglesbee, Devin, Gavrilov, Dimitar, Tortorelli, Silvia, Rinaldo, Piero, Raymond, Kimiyo, Matern, Dietrich

“…Background Newborn screening (NBS) for Krabbe disease (KD) in New York and Missouri is conducted by measuring galactocerebrosidase (GALC) activity using tandem…”
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Diagnosis of Very Long Chain Acyl-Dehydrogenase Deficiency From an Infant's Newborn Screening Card by Wood, John C, Magera, Mark J, Rinaldo, Piero, Seashore, Margretta Reed, Strauss, Arnold W, Friedman, Alan

“…Very long chain fatty acid dehydrogenase (VLCAD) deficiency is a rare but treatable cause of cardiomyopathy, fatty liver, skeletal myopathy, pericardial…”
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Hyperhomocysteinemia accelerates atherosclerosis in cystathionine β-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation by Wang, Hong, Jiang, XiaoHua, Yang, Fan, Gaubatz, John W., Ma, Lang, Magera, Mark J., Yang, XiaoFeng, Berger, Peter B., Durante, William, Pownall, Henry J., Schafer, Andrew I.

“…Although hyperhomocysteinemia is an independent risk factor for cardiovascular disease, a direct role for homocysteine (Hcy) in this disease remains to be…”
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Rapid Determination of Transferrin Isoforms by Immunoaffinity Liquid Chromatography and Electrospray Mass Spectrometry by Lacey, Jean M, Bergen, H. Robert, Magera, Mark J, Naylor, Stephen, O'Brien, John F

“…Congenital disorders of glycosylation (CDG) are autosomal recessive disorders that produce increased serum carbohydrate-deficient transferrin (CDT) isoforms…”
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Hyperhomocysteinemia inhibits post-injury reendothelialization in mice by Tan, Hongmei, Jiang, Xiaohua, Yang, Fan, Li, Zhaohui, Liao, Dan, Trial, JoAnn, Magera, Mark J, Durante, William, Yang, Xiaofeng, Wang, Hong

“…Hyperhomocysteinemia (HHcy) is a risk factor for cardiovascular disease and has been reported to inhibit endothelial cell (EC) growth. Notwithstanding,…”
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Homogentisic acid interference in routine urine creatinine determination by Loken, Perry R., Magera, Mark J., Introne, Wendy, Tortorelli, Silvia, Gavrilov, Dimitar, Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Raymond, Kimiyo

“…We report the artifactual elevation of homogentisic acid (HGA) in urine from alkaptonuric patients after replacing the creatinine method (Jaffe reaction) in…”
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Plasma homocysteine in obstructive sleep apnoea by Svatikova, Anna, Wolk, Robert, Magera, Mark J, Shamsuzzaman, Abu S, Phillips, Bradley G, Somers, Virend K

“…Aims Whether increased homocysteine is one mechanism linking obstructive sleep apnoea (OSA) to cardiovascular abnormalities is unclear. We hypothesised that…”
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Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I by Magera, Mark J., Gunawardena, Nishantha D., Hahn, Si Houn, Tortorelli, Silvia, Mitchell, Grant A., Goodman, Stephen I., Rinaldo, Piero, Matern, Dietrich

“…Tyrosinemia type I (TYR 1) is a severe disorder causing early death if left untreated. While tyrosine can be determined in dried blood spots (DBS), it is not a…”
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Methylmalonic Acid Measured in Plasma and Urine by Stable-Isotope Dilution and Electrospray Tandem Mass Spectrometry by Magera, Mark J, Helgeson, Janice K, Matern, Dietrich, Rinaldo, Piero

“…Liquid chromatography-tandem mass spectrometry (LC-MS/MS) with electrospray ionization is robust and allows accurate measurement of both low- and…”
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Liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine by MAGERA, Mark J, THOMPSON, Abby L, MATERN, Dietrich, RINALDO, Piero

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Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urine by KROLL, Charles A, MAGERA, Mark J, HELGESON, Janice K, MATERN, Dietrich, RINALDO, Piero

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Mass spectrometry methods for metabolic and health assessment by Matern, D, Magera, M J

“…Beginning in the mid 1960s, mass spectrometry was introduced in a few academic laboratories for the analysis of organic acids by gas chromatography-mass…”
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