Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death von Chace, Donald H, DiPerna, James C, Mitchell, Brenda L, Sgroi, Bethany, Hofman, Lindsay F, Naylor, Edwin W

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Maternal Screening for Hypothyroidism and Thyroiditis Using Filter Paper Specimens von FOLEY, T. P, HENRY, J. J, HOFMAN, L. F, THOMAS, R. D, SANFILIPPO, J. S, NAYLOR, E. W

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Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry von Chace, Donald H, Hillman, Steven L, Van Hove, Johan L. K, Naylor, Edwin W

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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients von Dobrowolski, S. F, Pey, A. L, Koch, R, Levy, H, Ellingson, C. C, Naylor, E. W, Martinez, A

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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 newbor... von 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 von Dobrowolski, Steven F, Borski, K, Ellingson, C C, Koch, R, Levy, H L, Naylor, E W

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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress von 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

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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 von Gibson, K.M., Bennett, M.J., Naylor, E.W., Morton, D.H.

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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 von Chace, DH, DiPerna, JC, Naylor, EW

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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: Iden... von 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

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THE APPLICATION OF TANDEM MASS SPECTROMETRY TO NEONATAL SCREENING FOR INHERITED DISORDERS OF INTERMEDIARY METABOLISM von Chace, Donald H, Kalas, Theodore A, Naylor, Edwin W

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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania : neonatal screening shows high incidence and unexpected mutation frequencies von RANA ZIADEH, HOFFMAN, E. P, FINEGOLD, D. N, HOOP, R. C, BRACKETT, J. C, STRAUSS, A. W, NAYLOR, E. W

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DNA microarray technology for neonatal screening von Dobrowolski, SF, Banas, RA, Naylor, EW, Powdrill, T, Thakkar, D

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Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism von Naylor, Edwin W., Chace, Donald H.

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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 von Hofman, L F, Foley, Jr, T P, Henry, J J, Naylor, E W

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Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism von CITRON, B. A, KAUFMAN, S, MILSTIEN, S, NAYLOR, E. W, GREENE, C. L, DAVIS, M. D

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

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Deletion of the ferrochelatase gene in a patient with protoporphyria von Magness, Scott T., Tugores, Antonio, Christensen, Steven R., Wagner-Mcpherson, Caryn, Evans, Glen A., Naylor, Edwin W., Brenner, David A.

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A high throughput β-globin genotyping method by multiplexed melting temperature analysis von Lin, Zhili, Suzow, Joseph G, Fontaine, Jamie M, Naylor, Edwin W

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New technologies in newborn screening von Naylor, E W

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