Published and Accepted Research Articles in Refereed Journals

  • 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, 2016 Feb 16 (Epub).  PMID: 26883219   DOI: 10.1007/s10545-015-9910-0
  • Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.  Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.  Orphanet J Rare Dis.  2015 Aug 20;10(1):99.
  • 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.
  • Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J 3rd, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, Stahl S.  A Randomized, Placebo-controlled, Double-blind Study of Sapropterin to Treat ADHD Symptoms and Executive Function Impairment in Children and Adults with Sapropterin-Responsive Phenylketonuria.  Mol Genet Metab.  2014 Nov 26 (Epub).
  • 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).
  • 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.  J Inherit Metab Dis.  2012 Dec 29 (Epub).
  • Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH.  Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness in patients with phenylketonuria.  Mol Genet Metab. 2012 Jul 20 (Epub).
  • Singh, R. H., Rohr, F. and Splett, P. L. (2011), Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. Journal of Evaluation in Clinical Practice. doi: 10.1111/j.1365-2753.2011.01807.x (PDF)
  • 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
  • Weaver MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS. Medical foods: Inborn errors of metabolism and the reimbursement dilemma. Genet Med. 2010 Jun;12(6):364-9.PMID: 20445457
  • 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
  • Kemper AR, Brewer CA, Singh RH. Perspectives on dietary adherence among women with inborn errors of metabolism. J Am Diet Assoc. 2010 Feb;110(2):247-52.PMID: 20102852
  • Yi S, Singh RH. Protein substitute for children and adults with phenylketonuria. Cochrane Database of Systematic Reviews. In press.
  • Singh RH, Jurecki E, Rohr F. Recommendations for personalized dietary adjustments based on patient response to Tetrahydrobiopterin (BH4) in phenylketonuria. Top Clin Nutr. 23:(No.2)149-157, 2008.
  • Singh RH, Kaczmarczyk MM. Standards of professional practice for genetic metabolic dietitians. Genet Med. 10(4):290-293, 2008.
  • Gregory CO, Yu C, Singh RH. Phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med. 9:761-765, 2007.
  • Singh RH. The enigma of medical foods. Molecular Genetics and Metabolism. 92:3-5, 2007.
  • Singh RH. Nutritional Management of Patients with Urea Cycle Disorders. Journal of Inherited Metabolic Disease. 30(No.6)880-887, 2007.

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


Low-Protein Cooking Conference


2006 - Present

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

Emory University Press