Publications

  • View all publications on PubMed

Published and Accepted Research Articles in Refereed Journals

Douglas TD, Nucci AM, Berry AM, Henes ST, Singh RH. Large neutral amino acid status in
association with P:T ratio and diet in adult and pediatric patients with phenylketonuria. JIMDReports. 2019;1–10. https://doi.org/10.1002/jmd2.12076

Brantley KD, Douglas TD, Singh RH. One-year follow-up of B vitamin and Iron status in patients
with phenylketonuria provided tetrahydrobiopterin (BH4). Orphanet Journal of Rare Diseases. 30 October 2018; 13:192 (Epub). https://doi.org/10.1186/s13023-018-0923-2

Coakley KE, Douglas TD, Goodman M, Ramakrishnan U, Dobrowolski SF, Singh RH.
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase
deficiency. J Inherit Metab Dis. 2016 May;39(3):363-72. doi: 10.1007/s10545-015-9910-0. Epub 2016 Feb 16.

Osara Y, Coakley KE, Aisthorpe A, Stembridge A, Quirk M, Splett PL, Rohr F, Singh RH. The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders (IMD). J Eval Clin Prac, 2015 Aug 12 (Epub). PMID: 26268585

Yi SH, Singh RH. Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev. 2015 Feb 27;(2):CD004731. PMID: 25723866

Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Bone health in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis. 2015 Feb 15;10(1):17. PMID: 25758373

Douglas TD, Ramakrishnan U, Kable JA, Singh RH. Longitudinal quality of life analysis in the  phenylketonuria cohort provided sapropterin dihydrochloride. Health Qual Life Outcomes, 2013 Dec 30; 11:218. PMID: 24373161

Douglas TD, Jinnah HA, Bernhard D, Singh RH. The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Mol Genet Metab. 2013 May 1 (Epub). PMID: 23712020

Singh RH, Quirk ME. Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Molecular Genetics and Metabolism, 2011 Dec; 104(4):485-91. Epub 2011 Sept 16

Yi SHL, 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, Feb 9, 2011.

Yi SHL, 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, Leukotrienes, and Essential Fatty Acids; 85: 317-327, 2011.

Quirk ME, Schmotzer BJ, Singh RH. Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc. 2010 Jun;110(6):922-5.PMID: 20497783

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. Epub 2010 Mar 9.PMID: 20217236

Book Chapters

  • Singh RH. Homocystinuria. Pediatric Nutrition in Chronic Diseases and Development Disorders: Prevention, Assessment, and Treatment. Ekvall, SW (Ed). Oxford University Press, New York, NY, 2005.
  • Singh RH. Maple Syrup Urine Disease. Pediatric Nutrition in Chronic Diseases and Development Disorders: Prevention, Assessment, and Treatment. Ekvall, SW (Ed). Oxford University Press, New York, NY, 2005.

Manuals, Videos, Computer Programs, and Other Teaching Aids

2001 - Present

PKU Food Exchange List

Emory University Press

2002 - Present

MSUD Food Exchange List

Emory University Press

2004

Low-Protein Cooking Conference

Video

2006 - Present

Nutritional Management of Urea Cycle Disorders: a practical reference for clinicians

Emory University Press