Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007) von Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, D., Rinaldo, P.

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Psychosine, a marker of Krabbe phenotype and treatment effect von Escolar, M.L., Kiely, B.T., Shawgo, E., Hong, X., Gelb, M.H., Orsini, J.J., Matern, D., Poe, M.D.

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Combined screening for lysosomal and peroxisomal disorders by Flow Injection Liquid Chromatography Mass Spectrometry (FIA-MS/MS) in Dried Blood Spots (DBS) von Tortorelli, S, Turgeon, C, Gavrilov, D, Oglesbee, D, Raymond, K, Rinaldo, P, Matern, D

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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clini... von Waisbren, S.E., Levy, H.L., Noble, M., Matern, D., Gregersen, N., Pasley, K., Marsden, D.

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Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms von Puckett, R.L., Lorey, F., Rinaldo, P., Lipson, M.H., Matern, D., Sowa, M.E., Levine, S., Chang, R., Wang, R.Y., Abdenur, J.E.

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The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I von Tortorelli, S., Hahn, S.H., Cowan, T.M., Brewster, T.G., Rinaldo, P., Matern, D.

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Liver transplantation for glycogen storage disease types I, III, and IV von Matern, D, Starzl, T E, Arnaout, W, Barnard, J, Bynon, J S, Dhawan, A, Emond, J, Haagsma, E B, Hug, G, Lachaux, A, Smit, G P, Chen, Y T

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Thiopurine methyltransferase screening before azathioprine prescription: a physician survey von Taylor-Gjevre, R M, Gjevre, J A, Nair, B V, Matern, D

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency von CORYDON, Morten Juhl, VOCKLEY, Jerry, LEVY, Harvey, SEWELL, Adrian Clive, ROE, Charles, MATERN, Dietrich, DASOUKI, Majed, GREGERSEN, Niels, RINALDO, Piero, RHEAD, William James, KJELDSEN, Margrethe, WINTER, Vibeke, RIGGS, Charles, BABOVIC-VUKSANOVIC, Dusica, SMEITINK, Jan, DE JONG, Jan

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Fatty acid oxidation disorders von Rinaldo, Piero, Matern, Dietrich, Bennett, Michael J

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Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene von McKinney, J.T, Longo, N, Hahn, S.H, Matern, D, Rinaldo, P, Strauss, A.W, Dobrowolski, S.F

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Clinical biochemical genetics in the twenty-first century von Rinaldo, P, Hahn, S, Matern, D

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Mice Heterozygous for a Defect in Mitochondrial Trifunctional Protein Develop Hepatic Steatosis and Insulin Resistance von Ibdah, Jamal A., Perlegas, Peter, Zhao, Yiwen, Angdisen, Jerry, Borgerink, Hermina, Shadoan, Melanie K., Wagner, Janice D., Matern, Dietrich, Rinaldo, Piero, Cline, J. Mark

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Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation von Rinaldo, P, Matern, D

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Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia von Bonilla Guerrero, R., Wolfe, L. A., Payne, N., Tortorelli, S., Matern, D., Rinaldo, P., Gavrilov, D., Melan, M., He, M., Steinberg, S. J., Raymond, G. V., Vockley, J., Gibson, K. M.

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Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis von MATERN, D, STRAUSS, A. W, HILLMAN, S. L, MAYATEPEK, E, MILLINGTON, D. S, TREFZ, F.-K

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Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome : Impact of expanded newborn screening on their diagnosis and management von SHEKHAWAT, Prem S, MATERN, Dietrich, STRAUSS, Arnold W

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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia von 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

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Mass Spectrometry Methods for Metabolic and Health Assessment von Matern, Dietrich, Magera, Mark J.

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Acylcarnitines in fibroblasts of patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency and other fatty acid oxidation disorders von Shen, J. J., Matern, D., Millington, D. S., Hillman, S., Feezor, M. D., Bennett, M. J., Qumsiyeh, M., Kahler, S. G., Chen, Y.‐T., Van Hove, J. L. K.

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