Research Publications

Aronoff A, Guan Y, Gurung S, Comeau DL, Singh RH. Assessing the lived experiences of females with phenylketonuria in their health management. Mol Genet Metab Rep. 2024 May 24;40:101095. doi: 10.1016/j.ymgmr.2024.101095. PMID: 38846519; PMCID: PMC11152756.
pubmed.ncbi.nlm.nih.gov/38846519/

Kenneson A, Borth MI, Singh RH. Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry. Mol Genet Metab Rep. 2024 May 18;39:101092. doi: 10.1016/j.ymgmr.2024.101092. PMID: 38800626; PMCID: PMC11126964.
pubmed.ncbi.nlm.nih.gov/38800626/ 

Schoen MS, Singh RH. Plasma metabolomic profile changes in females with phenylketonuria following a camp intervention. Am J Clin Nutr. 2022 Mar 4;115(3):811-821. doi: 10.1093/ajcn/nqab400. PMID: 34864852; PMCID: PMC8895208. pubmed.ncbi.nlm.nih.gov/34864852

Coakley KE, Porter-Bolton S, Salvatore ML, Blair RB, Singh RH. Food insecurity in females with phenylketonuria. JIMD Rep. 2020 Mar 20;53(1):103-110. doi: 10.1002/jmd2.12115. PMID: 32395415; PMCID: PMC7203643. pubmed.ncbi.nlm.nih.gov/32395415

Jani R, Coakley K, Douglas T, Singh R. Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency. Mol Genet Metab. 2017 Jun;121(2):104-110. doi: 10.1016/j.ymgme.2017.04.012. Epub 2017 Apr 28. PMID: 28465125. pubmed.ncbi.nlm.nih.gov/28465125

Coakley KE, Felner EI, Tangpricha V, Wilson PWF, Singh RH. Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency. JIMD Rep. 2017;36:67-77. doi: 10.1007/8904_2016_39. Epub 2017 Jan 28. PMID: 28130717; PMCID: PMC5680279. pubmed.ncbi.nlm.nih.gov/28130717

Douglas TD, Kennedy MJ, Quirk ME, Yi SH, Singh RH. Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuria. JIMD Rep. 2013;10:23-31. doi: 10.1007/8904_2012_196. Epub 2012 Dec 29. PMID: 23430796; PMCID: PMC3755576. pubmed.ncbi.nlm.nih.gov/23430796

Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH. Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Mol Genet Metab. 2012 Sep;107(1-2):31-6. doi: 10.1016/j.ymgme.2012.07.008. Epub 2012 Jul 20. PMID: 22841515; PMCID: PMC4029439. pubmed.ncbi.nlm.nih.gov/22841515

Yi SH, Kable JA, Evatt ML, Singh RH. A randomized, placebo-controlled, double-blind trial of supplemental docosahexaenoic acid on cognitive processing speed and executive function in females of reproductive age with phenylketonuria: A pilot study. Prostaglandins Leukot Essent Fatty Acids. 2011 Dec;85(6):317-27. doi: 10.1016/j.plefa.2011.09.004. Epub 2011 Oct 14. PMID: 22000478; PMCID: PMC4324569. pubmed.ncbi.nlm.nih.gov/22000478

Yi SH, Kable JA, Evatt ML, Singh RH. A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria. J Inherit Metab Dis. 2011 Apr;34(2):455-63. doi: 10.1007/s10545-011-9277-9. Epub 2011 Feb 9. PMID: 21305356; PMCID: PMC4227302. pubmed.ncbi.nlm.nih.gov/21305356

Singh RH, Quirk ME, Douglas TD, Brauchla MC. BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up. J Inherit Metab Dis. 2010 Dec;33(6):689-95. doi: 10.1007/s10545-010-9224-1. Epub 2010 Oct 13. PMID: 20941642. pubmed.ncbi.nlm.nih.gov/20941642

Mazer LM, Yi SH, Singh RH. Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease. J Inherit Metab Dis. 2010 Apr;33(2):121-7. doi: 10.1007/s10545-010-9066-x. Epub 2010 Mar 9. PMID: 20217236. pubmed.ncbi.nlm.nih.gov/20217236

Gregory CO, Yu C, Singh RH. Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med. 2007 Nov;9(11):761-5. doi: 10.1097/GIM.0b013e318159a355. PMID: 18007145. pubmed.ncbi.nlm.nih.gov/18007145


Brown AS, Fernhoff PM, Waisbren SE, Frazier DM, Singh R, Rohr F, Morris JM, Kenneson A, MacDonald P, Gwinn M, Honein M, Rasmussen SA. Barriers to successful dietary control among pregnant women with phenylketonuria. Genet Med. 2002 Mar-Apr;4(2):84-9. doi: 10.1097/00125817-200203000-00006. PMID: 11882785. pubmed.ncbi.nlm.nih.gov/11882785

Singh RH, Kable JA, Guerrero NV, Sullivan KM, Elsas LJ 2nd. Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls. J Am Diet Assoc. 2000 Jul;100(7):797-803. doi: 10.1016/s0002-8223(00)00232-7. PMID: 10916518. pubmed.ncbi.nlm.nih.gov/10916518