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D. Frazier · SciRah

Researcher profile · Semantic Scholar

D. Frazier

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D. Frazier — researcher profile on SciRah

h-index: 17
Works: 32
Citations: 2,618

Most-cited papers

Phenylalanine hydroxylase deficiency: diagnosis and management guideline
J. Vockley, H. Andersson, K. Antshel, N. Braverman +6 more
2013Genetics in Medicine653 citations Open access
Semantic Scholar
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
D. McHugh, C. Cameron, J. Abdenur, M. Abdulrahman +242 more
2011Genetics in Medicine338 citations Open access
Semantic Scholar
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M. Camp, M. Parisi, P. Acosta, G. Berry +58 more
2014Molecular Genetics and Metabolism245 citations
Semantic Scholar
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.
B. Andresen, S. Dobrowolski, Linda P. O'Reilly, J. Muenzer +10 more
2001American Journal of Human Genetics238 citations Open access
Semantic Scholar
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
Rani H. Singh, F. Rohr, D. Frazier, A. Cunningham +8 more
2014Genetics in Medicine207 citations Open access
Semantic Scholar
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
D. Frazier, Courtney Allgeier, C. Homer, B. Marriage +5 more
2014Molecular Genetics and Metabolism191 citations Open access
Semantic Scholar
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, R. Currier, D. McHugh, D. Gavrilov +123 more
2012Genetics in Medicine125 citations Open access
Semantic Scholar
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Rani H. Singh, A. Cunningham, S. Mofidi, T. Douglas +12 more
2016Molecular Genetics and Metabolism105 citations
Semantic Scholar
Impact of expanded newborn screening--United States, 2006.
B. Therrell, F. Lorey, R. Eaton, D. Frazier +5 more
2008MMWR. Morbidity and mortality weekly report85 citations
Semantic Scholar
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
S. Houten, S. Denis, Heleen te Brinke, A. Jongejan +9 more
2014Human Molecular Genetics77 citations
Semantic Scholar
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
L. Milko, Julianne M. O'Daniel, Daniela M. DeCristo, Stephanie B. Crowley +14 more
2019Jornal de Pediatria66 citations Open access
Semantic Scholar
Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach.
E. Jurecki, K. Ueda, D. Frazier, F. Rohr +10 more
2019Molecular Genetics and Metabolism62 citations Open access
Semantic Scholar
Barriers to successful dietary control among pregnant women with phenylketonuria
Amanda S. Brown, P. Fernhoff, S. Waisbren, D. Frazier +8 more
2002Genetics in Medicine60 citations Open access
Semantic Scholar
Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays.
D. Frazier, G. Summer, H. R. Chamberlin
1978A M A Journal of Diseases of Children44 citations
Semantic Scholar
The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
Linda P. O'Reilly, P. Bross, T. Corydon, S. Olpin +8 more
2004European Journal of Biochemistry34 citations Open access
Semantic Scholar
Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.
Alice A. Basinger, J. Booker, D. Frazier, D. Koeberl +2 more
2006Molecular Genetics and Metabolism27 citations
Semantic Scholar
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
Kathryn M. Camp, M. Lloyd-Puryear, Lynne Yao, S. Groft +16 more
2013Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Corrigendum: Phenylalanine hydroxylase deficiency: diagnosis and management guideline
J. Vockley, H. Andersson, K. Antshel, N. Braverman +6 more
2014Genetics in Medicine9 citations Open access
Semantic Scholar
Influenza Vaccine Administration in Egg Allergic Children
F. S. Khan, F. S. Virant, C. T. Furukawa, L. Altman +16 more
20128 citations
Semantic Scholar
Maternal PKU: Thirteen years after epidemiological projections
H. N. Jr Kirkman, D. Frazier
19965 citations
Semantic Scholar
Analysis of galactose-1-PO4 and galactose in blood by a new microfluorometric method.
D. Frazier, W. S. Cozart, G. Summer
1978Biochemical Medicine4 citations
Semantic Scholar
Role of medical food in MMA
A. Cunningham, D. Frazier, B. Marriage, S. Mofidi +5 more
2016Genetics in Medicine3 citations Open access
Semantic Scholar
Exceptional children : biological and psychological perspectives
James R. Frazier, D. Frazier
19743 citations
Semantic Scholar
Methylmalonic Acidemia and Propionic Acidemia
D. Frazier
20172 citations
Semantic Scholar
Isovaleric Acidemia and 3-Methylcrotonyl Glycinuria
D. Frazier
20171 citations
Semantic Scholar
reductase deficiency with hyperlysinemia
S. Houten, S. Denis, A. Jongejan, E. Bradley +3 more
20141 citations
Semantic Scholar
Tandem Mass Spectrometry Newborn Screening and Its Impact on Inborn Errors of Metabolism
D. Frazier
20091 citations
Semantic Scholar
The Effect of the Cost and Perceived Cost of Special Low Protein Foods on their Utilization and Dietary Compliance in Phenylketonuria
D. Frazier, S. Pendyal
19991 citations
Semantic Scholar
Reviewer Acknowledgment
R. Acton, L. Ala-Kokko, R. Anderson, Donna K. Arnett +77 more
2004Genetics in Medicine0 citations Open access
Semantic Scholar
Nutritionists In The Field Of Genetics: Their Roles, Reimbursement Procedures, And Educational Needs
T. Carithers, D. Frazier, Rani H. Singh
19960 citations
Semantic Scholar
Galactose-1-phosphate uridyltransferase of lemurs: A comparison of four species
G. Mason, D. Frazier, Fred C. Kull
1980International journal of primatology0 citations
Semantic Scholar
Isolation of high molecular weight DNA from Neurospora
W. Barnett, C. Wüst, A. Gib DeBusk, D. Frazier
19630 citations Open access
Semantic Scholar

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