Research Publications

Kenneson A, Borth MI, Singh RH (2024) Characteristics and Outcomes of Pregnancies among Women with Phenylketonuria from the NBS Connect Registry. Mol Genet Metab Rep 39:101092.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.