Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)
Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, D., Rinaldo, P.
Published in Journal of inherited metabolic disease (01.08.2007)
Published in Journal of inherited metabolic disease (01.08.2007)
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Journal Article
Psychosine, a marker of Krabbe phenotype and treatment effect
Escolar, M.L., Kiely, B.T., Shawgo, E., Hong, X., Gelb, M.H., Orsini, J.J., Matern, D., Poe, M.D.
Published in Molecular genetics and metabolism (01.07.2017)
Published in Molecular genetics and metabolism (01.07.2017)
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Journal Article
Combined screening for lysosomal and peroxisomal disorders by Flow Injection Liquid Chromatography Mass Spectrometry (FIA-MS/MS) in Dried Blood Spots (DBS)
Tortorelli, S, Turgeon, C, Gavrilov, D, Oglesbee, D, Raymond, K, Rinaldo, P, Matern, D
Published in Journal of the neurological sciences (15.10.2015)
Published in Journal of the neurological sciences (15.10.2015)
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Journal Article
Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms
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.
Published in Molecular genetics and metabolism (01.06.2010)
Published in Molecular genetics and metabolism (01.06.2010)
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Journal Article
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
Waisbren, S.E., Levy, H.L., Noble, M., Matern, D., Gregersen, N., Pasley, K., Marsden, D.
Published in Molecular genetics and metabolism (01.09.2008)
Published in Molecular genetics and metabolism (01.09.2008)
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Journal Article
Liver transplantation for glycogen storage disease types I, III, and IV
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
Published in European journal of pediatrics (01.12.1999)
Published in European journal of pediatrics (01.12.1999)
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Journal Article
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene
McKinney, J.T, Longo, N, Hahn, S.H, Matern, D, Rinaldo, P, Strauss, A.W, Dobrowolski, S.F
Published in Molecular genetics and metabolism (01.06.2004)
Published in Molecular genetics and metabolism (01.06.2004)
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Journal Article
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
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
Published in Pediatric research (2001)
Published in Pediatric research (2001)
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Journal Article
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia
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.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
A-219 A Multiplexed Targeted Assay for Gangliosides Using Liquid Chromatography-Tandem Mass Spectrometry
Kim, J, Byeon, S, Oglesbee, D, Matern, D, Schultz, M J, Pandey, A
Published in Clinical chemistry (Baltimore, Md.) (27.09.2023)
Published in Clinical chemistry (Baltimore, Md.) (27.09.2023)
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Journal Article
Acylcarnitines in fibroblasts of patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency and other fatty acid oxidation disorders
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.
Published in Journal of inherited metabolic disease (01.02.2000)
Published in Journal of inherited metabolic disease (01.02.2000)
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Journal Article
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis
MATERN, D, STRAUSS, A. W, HILLMAN, S. L, MAYATEPEK, E, MILLINGTON, D. S, TREFZ, F.-K
Published in Pediatric research (01.07.1999)
Published in Pediatric research (01.07.1999)
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Journal Article
Acylcarnitines in plasma and blood spots of patients with long‐chain 3‐hydroxyacyl‐coenzyme A dehydrogenase defiency
Van Hove, J. L. K., Kahler, S. G., Feezor, M. D., Ramakrishna, J. P., Hart, P., Treem, W. R., Shen, J.‐J., Matern, D., Millington, D. S.
Published in Journal of inherited metabolic disease (01.09.2000)
Published in Journal of inherited metabolic disease (01.09.2000)
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Journal Article