Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death
Chace, Donald H, DiPerna, James C, Mitchell, Brenda L, Sgroi, Bethany, Hofman, Lindsay F, Naylor, Edwin W
Published in Clinical chemistry (Baltimore, Md.) (01.07.2001)
Published in Clinical chemistry (Baltimore, Md.) (01.07.2001)
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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients
Dobrowolski, S. F, Pey, A. L, Koch, R, Levy, H, Ellingson, C. C, Naylor, E. W, Martinez, A
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
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Conference Proceeding
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
Chace, Donald H, Hillman, Steven L, Van Hove, Johan L. K, Naylor, Edwin W
Published in Clinical chemistry (Baltimore, Md.) (01.11.1997)
Published in Clinical chemistry (Baltimore, Md.) (01.11.1997)
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Conference Proceeding
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
Chace, DH, Hillman, SL, Millington, DS, Kahler, SG, Roe, CR, Naylor, EW
Published in Clinical chemistry (Baltimore, Md.) (01.01.1995)
Published in Clinical chemistry (Baltimore, Md.) (01.01.1995)
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Conference Proceeding
Rapid diagnosis of methylmalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns
CHACE, Donald H, DIPERNA, James C, KALAS, Theodore A, JOHNSON, Ronald W, NAYLOR, Edwin W
Published in Clinical chemistry (Baltimore, Md.) (01.11.2001)
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Published in Clinical chemistry (Baltimore, Md.) (01.11.2001)
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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
Dobrowolski, Steven F, Borski, K, Ellingson, C C, Koch, R, Levy, H L, Naylor, E W
Published in Journal of human genetics (01.06.2009)
Published in Journal of human genetics (01.06.2009)
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DNA microarray technology for neonatal screening
Dobrowolski, SF, Banas, RA, Naylor, EW, Powdrill, T, Thakkar, D
Published in Acta Paediatrica (01.12.1999)
Published in Acta Paediatrica (01.12.1999)
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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
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
Published in JAMA : the journal of the American Medical Association (19.11.2003)
Published in JAMA : the journal of the American Medical Association (19.11.2003)
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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania : neonatal screening shows high incidence and unexpected mutation frequencies
RANA ZIADEH, HOFFMAN, E. P, FINEGOLD, D. N, HOOP, R. C, BRACKETT, J. C, STRAUSS, A. W, NAYLOR, E. W
Published in Pediatric research (01.05.1995)
Published in Pediatric research (01.05.1995)
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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
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
Published in American journal of human genetics (01.06.2001)
Published in American journal of human genetics (01.06.2001)
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Conference Proceeding
Deletion of the ferrochelatase gene in a patient with protoporphyria
Magness, S T, Tugores, A, Christensen, S R, Wagner-Mcpherson, C, Evans, G A, Naylor, E W, Brenner, D A
Published in Human molecular genetics (01.09.1994)
Published in Human molecular genetics (01.09.1994)
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