Dianne M. Frazier

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley, Hans C. Andersson, Kevin M. Antshel et al. · Genetics in Medicine · 2014 · 692 citations · Full text

Medicine, Clinical Nutrition, Pathology +4

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

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 263 citations

Translational Medicine, Chronic Kidney Disease, Renal Pathology +5

The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

Dianne M. Frazier, David S. Millington, Shawn E. McCandless et al. · Journal of Inherited Metabolic Disease · 2006 · 242 citations

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*

Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly et al. · The American Journal of Human Genetics · 2001 · 232 citations · Full text

Clinical Symptoms, Mendelian Disorder, Prevalent Mutation +14