Dianne M. Frazier
University of North Carolina at Chapel Hill(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Diet and metabolism studies, Biochemical and Molecular Research, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Phenylalanine hydroxylase deficiency: diagnosis and management guideline(2014)703 cited
- → Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project(2011)349 cited
- → Phenylketonuria Scientific Review Conference: State of the science and future research needs(2014)266 cited
- → The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005(2006)244 cited
- → 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*(2001)232 cited
- → Recommendations for the nutrition management of phenylalanine hydroxylase deficiency(2014)218 cited
- → Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach(2014)178 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach(2016)100 cited
- → Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening(2003)87 cited