D. Frazier

发表

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.

I Knudsen, P. Bross, B. Andresen, 2001, American journal of human genetics.

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

D. Millington, D. Koeberl, S. McCandless, 2006, Journal of Inherited Metabolic Disease.

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

D. Millington, D. Koeberl, S. McCandless, 2003, Journal of Inherited Metabolic Disease.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

P. Bross, B. Andresen, P. Engel, 2004, European journal of biochemistry.

Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays.

G. Summer, D. Frazier, H. R. Chamberlin, 1978, American journal of diseases of children.

Influenza Vaccine Administration in Egg Allergic Children

D. Frazier, M. Lasley, F. Virant, 2012 .

Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach.

Rani H. Singh, D. Frazier, K. Ueda, 2019, Molecular genetics and metabolism.

Tandem Mass Spectrometry Newborn Screening and Its Impact on Inborn Errors of Metabolism

D. Frazier, 2009 .

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.

Kathryn M. Camp, J. Gohagan, M. Watson, 2013, Molecular genetics and metabolism.

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

Rani H. Singh, D. Frazier, F. Rohr, 2014, Molecular genetics and metabolism.

Systematic Review Materials and Methods Recommendations Were Developed by a Cooperative Effort among Genetic Metabolic Dietitians International, the Southeast Regional Genetics Collaborative, and Dietitians from the Diet Control and Management and Maternal Pku Workgroups from the National Institutes

J. Vockley, K. Moseley, Rani H. Singh, 2022 .

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

Melissa L McPheeters, Mary Lou Lindegren, Anita MacDonald, 2014, Molecular genetics and metabolism.

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

John J. Mitchell, Jerry Vockley, Barbara K Burton, 2013, Genetics in Medicine.

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

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

F. Baas, R. Hennekam, S. Denis, 2014, Human molecular genetics.

reductase deficiency with hyperlysinemia

F. Baas, S. Denis, S. Houten, 2014 .

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.

K. Moseley, Rani H. Singh, D. Frazier, 2016, Molecular genetics and metabolism.

Analysis of galactose-1-PO4 and galactose in blood by a new microfluorometric method.

G. Summer, D. Frazier, W. S. Cozart, 1978, Biochemical medicine.

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

J. Berg, Julianne M. O’Daniel, C. Powell, 2019, The Journal of pediatrics.

Minimizing false positive diagnoses in newborn screening for galactosemia.

D. Frazier, H. Kirkman, E. Clemons, 1992, Biochemical medicine and metabolic biology.

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Jerry Vockley, J. Vockley, K. Moseley, 2014, Genetics in Medicine.

Impact of expanded newborn screening--United States, 2006.

O. Devine, D. Frazier, C. Boyle, 2008, MMWR. Morbidity and mortality weekly report.

Exceptional children : biological and psychological perspectives

D. Frazier, J. R. Frazier, 1974 .

Barriers to successful dietary control among pregnant women with phenylketonuria

P. Fernhoff, S. Waisbren, M. Gwinn, 2002, Genetics in Medicine.

Maternal PKU: Thirteen years after epidemiological projections

D. Frazier, H. Kirkman, 1996 .

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

J. Booker, A. Basinger, D. Koeberl, 2006, Molecular genetics and metabolism.