Search Results - "Naylor, EW"

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns by Chace, Donald H, Kalas, Theodore A, Naylor, Edwin W

“…Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, specific,…”
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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress by Waisbren, Susan E, Albers, Simone, Amato, Steve, Ampola, Mary, Brewster, Thomas G, Demmer, Laurie, Eaton, Roger B, Greenstein, Robert, Korson, Mark, Larson, Cecilia, Marsden, Deborah, Msall, Michael, Naylor, Edwin W, Pueschel, Siegfried, Seashore, Margretta, Shih, Vivian E, Levy, Harvey L

“…CONTEXT Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of…”
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Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death by Chace, Donald H, DiPerna, James C, Mitchell, Brenda L, Sgroi, Bethany, Hofman, Lindsay F, Naylor, Edwin W

“…Deaths from inherited metabolic disorders may remain undiagnosed after postmortem examination and may be classified as sudden infant death syndrome. Tandem…”
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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency by Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, Muenzer, Joseph, McCandless, Shawn E., Frazier, Dianne M., Udvari, Szabolcs, Bross, Peter, Knudsen, Inga, Banas, Rick, Chace, Donald H., Engel, Paul, Naylor, Edwin W., Gregersen, Niels

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial β-oxidation defect, and it is potentially fatal. Eighty…”
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THE APPLICATION OF TANDEM MASS SPECTROMETRY TO NEONATAL SCREENING FOR INHERITED DISORDERS OF INTERMEDIARY METABOLISM by Chace, Donald H, Kalas, Theodore A, Naylor, Edwin W

“…This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making…”
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Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism by Naylor, Edwin W., Chace, Donald H.

“…Development of acylcarnitine and amino acid profiling using tandem mass spectrometry, and its application for use with dried blood specimens collected on…”
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Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry by Chace, Donald H, Hillman, Steven L, Van Hove, Johan L. K, Naylor, Edwin W

“…We report the application of tandem mass spectrometry to prospective newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. MCAD…”
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Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency by Lin, Zhili, Fontaine, Jamie M., Freer, Dennis E., Naylor, Edwin W.

“…Newborn screening for G6PD deficiency has been carried out in several countries for more than 25 years. A semi-quantitative enzymatic assay has been used in…”
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Rapid diagnosis of methylmalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns by CHACE, Donald H, DIPERNA, James C, KALAS, Theodore A, JOHNSON, Ronald W, NAYLOR, Edwin W

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A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin by Dobrowolski, Steven F, Borski, K, Ellingson, C C, Koch, R, Levy, H L, Naylor, E W

“…Phenylketonuria (PKU) is an autosomal recessive defect in hepatic metabolism of phenylalanine, which is secondary to mutations in the phenylalanine hydroxylase…”
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Neonatal blood carnitine concentrations: Normative data by electrospray tandem mass spectometry by CHACE, Donald H, PONS, Roser, CHIRIBOGA, Claudia A, MCMAHON, Donald J, TEIN, Ingrid, NAYLOR, Edwin W, DE VIVO, Darryl C

“…Despite a number of published reports, there is limited information about carnitine metabolism in the newborn. To establish normative data, we analyzed…”
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Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium by Chace, DH, DiPerna, JC, Naylor, EW

“…Clinical and neonatal screening methods using a tandem mass spectrometer are clearly a model for modern laboratory testing in the new Millennium. By the year…”
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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry by Chace, D H, Hillman, S L, Millington, D S, Kahler, S G, Roe, C R, Naylor, E W

“…We report a new method for the diagnosis of maple syrup urine disease (MSUD) from dried blood spots on newborn screening cards based on tandem mass…”
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Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency by Dobrowolski, Steven F, Angeletti, Janine, Banas, Richard A, Naylor, Edwin W

“…Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism caused by defects in the biotinidase gene. Symptoms of biotinidase deficiency…”
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Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene: New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia by Dobrowolski, Steven F, Banas, Richard A, Suzow, Joseph G, Berkley, Michelle, Naylor, Edwin W

“…Classical galactosemia is a genetic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. Prospective newborn screening for…”
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A high throughput β-globin genotyping method by multiplexed melting temperature analysis by Lin, Zhili, Suzow, Joseph G, Fontaine, Jamie M, Naylor, Edwin W

“…For a population-based newborn screening program, challenges exist in using technological advances to improve the quality and efficiency of the existing…”
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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children by Gibson, K.M., Bennett, M.J., Naylor, E.W., Morton, D.H.

“…Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County,…”
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DNA microarray technology for neonatal screening by Dobrowolski, SF, Banas, RA, Naylor, EW, Powdrill, T, Thakkar, D

“…Modern molecular biology, owing much to the Human Genome Initiative, has elucidated many of the genetic mechanisms underlying heritable metabolic disease…”
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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania : neonatal screening shows high incidence and unexpected mutation frequencies by RANA ZIADEH, HOFFMAN, E. P, FINEGOLD, D. N, HOOP, R. C, BRACKETT, J. C, STRAUSS, A. W, NAYLOR, E. W

“…Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids. The disorder typically presents with episodes…”
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Assays for thyroid-stimulating hormone using dried blood spotted filter paper specimens to screen for hypothyroidism in older children and adults by Hofman, L F, Foley, Jr, T P, Henry, J J, Naylor, E W

“…Symptoms of hypothyroidism in adults can be mistaken for medical and psychiatric diseases, as well as for general signs of ageing such as weakness, lethargy…”
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