Dietrich Matern

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hülya Kayserili et al. · Science · 2012 · 308 citations · Full text

Acylcarnitine profile analysis

Piero Rinaldo, Tina M. Cowan, Dietrich Matern · Genetics in Medicine · 2008 · 222 citations · Full text

Medicine, Pharmacotherapy, Pharmacology +2

Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)

Dietrich Matern, Silvia Tortorelli, Devin Oglesbee et al. · Journal of Inherited Metabolic Disease · 2007 · 220 citations · Full text

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Jean M. Lacey, Carla Minutti, Mark J Magera et al. · Clinical Chemistry · 2004 · 212 citations · Full text