Matern, Dietrich

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., et al. (2012) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 320

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. (2007) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 217

Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry

Lacey, J. M., Minutti, C. Z., Magera, M. J., Tauscher, A. L., Casetta, B., McCann, M., Lymp, J., Hahn, S. H., Rinaldo, P., & Matern, D. (2004) · Clinical Chemistry

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 216

Mice Heterozygous for a Defect in Mitochondrial Trifunctional Protein Develop Hepatic Steatosis and Insulin Resistance

Ibdah, J. A., Perlegas, P., Zhao, Y., Angdisen, J., Borgerink, H., Shadoan, M. K., Wagner, J. D., Matern, D., Rinaldo, P., & Cline, J. M. (2005) · Gastroenterology

Liver Disease Diagnosis and TreatmentMetabolism and Genetic Disorders

Cited by 186

Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death

Ibdah, J. A., Paul, H., Zhao, Y., Binford, S., Salleng, K., Cline, M., Matern, D., Bennett, M. J., Rinaldo, P., & Strauss, A. W. (2001) · Journal of Clinical Investigation

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 181

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia

Minutti, C. Z., Lacey, J. M., Magera, M. J., Hahn, S. H., McCann, M., Schulze, A., Cheillan, D., Dorche, C., Chace, D. H., Lymp, J. F., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersMetabolism and Genetic Disorders

Cited by 154

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

Turgeon, C., Magera, M. J., Allard, P., Tortorelli, S., Gavrilov, D., Oglesbee, D., Raymond, K., Rinaldo, P., & Matern, D. (2008) · Clinical Chemistry

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 145

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D., & Tortorelli, S. (2015) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 60

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

Alfardan, J., Mohsen, A.-W., Copeland, S., Ellison, J., Keppen-Davis, L., Rohrbach, M., Powell, B. R., Gillis, J., Matern, D., Kant, J., et al. (2010) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 46

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith–Lemli–Opitz Syndrome

Hall, P., Michels, V., Gavrilov, D., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P., & Tortorelli, S. (2013) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 45

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Matern, D., Oglesbee, D., & Tortorelli, S. (2013) · Developmental Disabilities Research Reviews

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 41