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Profile

Rani Singh PhD

  • Department of Human Genetics
    Professor
  • (404) 778-8519
  • rsingh@emory.edu
  • Singh Research Group Lab
  • 101 Woodruff Circle
    Suite 7130
    Atlanta, GA 30322
Head shot of Rani Singh

Overview

Nutritional care is an essential component for the management of genetic disorders, which has been validated by numerous studies and become increasingly important with the adoption of expanded newborn screening.

Developing a comprehensive, research-based nutrition program that can serve as a national model is one of the driving forces in my career. As part of that commitment, I serve as the principal investigator for the Southeast Regional Genetics Network (SERN), which addresses gaps in genetic services and is funded through the federal Health Resource and Services Administration (HRSA).

In addition, I foster collaborative research with investigators and clinicians throughout the U.S., spearheading evidence- and consensus-based guidelines for nutrition, metabolism, and rare genetic disorders. These guidelines were accepted by the Agency for Healthcare Research and Quality (AHRQ) and are available to providers worldwide to improve patient outcomes.

Our metabolic clinic brings together a large pool of patients with rare diseases, creating a unique clinical, teaching, and research resource for students, clinicians, and researchers. In 2019, we became the first institution to offer both post-masters and post-doctoral nutrition clinical research fellowship training in this specialized field and are now expanding global training utilizing Extension for Community Healthcare Outcomes (ECHO) model through electronic Genetic Nutrition Academy (eGNA).

Our research focuses on the development of nutritional treatment recommendations that promote optimal growth and development and prevent adverse neurological and health consequences in individuals with genetic metabolic disorders.

Academic Appointment

  • Professor, Human Genetics, Emory University
  • Professor, Department of Pediatrics,, Emory University
  • Faculty, Nutrition and Health Sciences, Emory University

Education

Degrees

  • MEd from Georgia State University
  • BS from Lady Irwin College
  • Post-Bac from Lady Irwin College
  • PhD from University of Georgia

Research

Focus

  • Nutrition therapy

    Nutrition therapy is pivotal in the treatment of individuals diagnosed with genetic disorders and inborn errors of metabolism (IEMs), including all patients identified through newborn screening. The focus of our work at both regional and national levels includes: 1) developing and assessing approaches to research-based programmatic nutrition interventions, 2) evaluating the efficacy of restrictive diets for IEMs, and investigating the relationships between genotypes, metabolomics, and nutrition interventions as they relate to treatment outcomes.

Publications

  • Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.
    J Community Genet Volume: 16 Page(s): 131 - 137
    04/01/2025 Authors: Kenneson A; Thornton Y; Cole C; Iyer S; Rosen AR; Singh RH
  • Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.
    J Inherit Metab Dis Volume: 48 Page(s): e70001
    03/01/2025 Authors: Ilgaz F; Hller A; Marsaux C; Banta-Wright S; Cokun T; Dingess KA; Jrg-Streller M; Newby C; Singh R; Stahl B
  • Corrigendum to "Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data" [Molecular Genetics and Metabolism 141, Issue 3 (2024) 108122].
    Mol Genet Metab Volume: 143 Page(s): 108613
    12/01/2024 Authors: Rohr F; Burton B; Dee A; Harding CO; Lilienstein J; Lindstrom K; MacLeod E; Rose S; Singh R; van Calcar S
  • Assessing the lived experiences of females with phenylketonuria in their health management.
    Mol Genet Metab Rep Volume: 40 Page(s): 101095
    09/01/2024 Authors: Aronoff A; Guan Y; Gurung S; Comeau DL; Singh RH
  • Delivering Telegenetics Services: Review and Synthesis of Best Practices.
    Telemed J E Health Volume: 30 Page(s): e2232 - e2239
    08/01/2024 Authors: Flannery D; Alverson D; Greene C; Krupsinksi E; Mann S; Terry A; Thomas J; Lyon M; Singh R; Dean LW
  • Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry.
    Mol Genet Metab Rep Volume: 39 Page(s): 101092
    06/01/2024 Authors: Kenneson A; Borth MI; Singh RH
  • Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
    Mol Genet Metab Rep Volume: 39 Page(s): 101084
    06/01/2024 Authors: Harding CO; Longo N; Northrup H; Sacharow S; Singh R; Thomas JA; Vockley J; Zori RT; Bulloch Whitehall K; Lilienstein J
  • The relationship between working memory and anxiety in individuals with early treated phenylketonuria (PKU).
    Neuropsychology Volume: 38 Page(s): 368 - 378
    05/01/2024 Authors: Boland KM; Schoen MS; Singh RH; Clocksin HE; Cissne MN; Christ SE
  • COVID-19 Stress and Child Behavior: Examining Discrimination and Social Support in Racially Diverse ECHO Cohorts.
    J Am Acad Child Adolesc Psychiatry Volume: 63 Page(s): 528 - 538
    05/01/2024 Authors: Brennan PA; Nozadi SS; McGrath M; Churchill ML; Dunlop AL; Elliott AJ; MacKenzie D; Margolis AE; Ghassabian A; McEvoy CT
  • The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.
    Orphanet J Rare Dis Volume: 19 Page(s): 168
    04/18/2024 Authors: Singh RH; Bourdages M-H; Kurtz A; MacLoed E; Norman C; Ratko S; van Calcar SC; Kenneson A
  • Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data.
    Mol Genet Metab Volume: 141 Page(s): 108122
    03/01/2024 Authors: Rohr F; Burton B; Dee A; Harding CO; Lilienstein J; Lindstrom K; MacLeod E; Rose S; Singh R; van Calcar S
  • Evaluation of pediatric epigenetic clocks across multiple tissues.
    Clin Epigenetics Volume: 15 Page(s): 142
    09/02/2023 Authors: Fang F; Zhou L; Perng W; Marsit CJ; Knight AK; Cardenas A; Aung MT; Hivert M-F; Aris IM; Goodrich JM
  • Total choline intake and working memory performance in adults with phenylketonuria.
    Orphanet J Rare Dis Volume: 18 Page(s): 222
    07/29/2023 Authors: Schoen MS; Boland KM; Christ SE; Cui X; Ramakrishnan U; Ziegler TR; Alvarez JA; Singh RH
  • Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.
    Orphanet J Rare Dis Volume: 18 Page(s): 155
    06/22/2023 Authors: Cunningham A; Rohr F; Splett P; Mofidi S; Bausell H; Stembridge A; Kenneson A; Singh RH
  • Characterization of Choline Nutriture among Adults and Children with Phenylketonuria.
    Nutrients Volume: 14
    09/29/2022 Authors: Schoen MS; Ramakrishnan U; Alvarez JA; Ziegler TR; Cui X; Singh RH
  • Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada.
    Mol Genet Metab Rep Volume: 31 Page(s): 100865
    06/01/2022 Authors: Buckingham A; Kenneson A; Singh RH
  • Patient-centered nutrition management and education of three infants diagnosed with and successfully treated for isovaleric acidemia
    Volume: 136 Page(s): S20 - S20
    05/01/2022 Authors: Williamson JL; Ryan LM; Gurung SR; Singh RH
  • Dietary fatty acid and cholesterol intake changes in patients with phenylketonuria (PKU) after one year of sapropterin-responsive diet liberalization
    Volume: 136 Page(s): S22 - S22
    05/01/2022 Authors: Douglas TD; Singh RH
  • Bridging the gap in access to filter paper monitoring in patients with phenylketonuria - a Medical Nutrition Therapy for Prevention (MNT4P) program initiative
    Volume: 136 Page(s): S22 - S23
    05/01/2022 Authors: Gurung SR; Narlow K; Williamson JL; Singh RH
  • Lessons learned from the nutritional management of a patient with complex CblB MMA: a case study
    Volume: 136 Page(s): S14 - S14
    05/01/2022 Authors: Draper KA; Williamson JL; Singh RH
  • Medical formula requirements of patients with PKU on BH4 treatment: a systematic review and meta-analysis
    Volume: 136 Page(s): S25 - S26
    05/01/2022 Authors: Singh RH; Ilgaz F; Marsaux CFM; Pinto A; Rohde C; Karabulut E; Gokmen-Ozel H; Kuhn M; MacDonald A
  • Knowledge gains among providers specializing in inherited metabolic disorders after participating in eGNA's Genetic Nutrition ECHO traineeship
    Volume: 136 Page(s): S11 - S11
    05/01/2022 Authors: Douglas T; Ryan L; Williamson J; Blair R; Pringle T; Singh RH
  • NBS AND CULTURALLY COMPETENT DIETARY MANAGEMENT FROM AROUND THE US AND THE WORLD
    Volume: 135 Page(s): 244 - 244
    04/01/2022 Authors: Singh RH; Marriage B
  • ANXIETY AND WORKING MEMORY IN EARLY-TREATED PHENYLKETONURIA
    Volume: 135 Page(s): 260 - 261
    04/01/2022 Authors: Boland KM; Singh RH; Schoen MS; Cissne MN; Clocksin HE; Christ SE
  • ELECTRONIC GENETIC NUTRITION ACADEMY (EGNA): AN INNOVATIVE ONLINE MODEL FOR TRAINING NUTRITIONAL MANAGEMENT FOR INHERITED METABOLIC DISORDERS TO GENETIC PROVIDERS
    Volume: 135 Page(s): 299 - 300
    04/01/2022 Authors: Singh RH; Blair RB; Ryan L; Pringle T; Williamson J; Douglas TD
  • Plasma metabolomic profile changes in females with phenylketonuria following a camp intervention.
    Am J Clin Nutr Volume: 115 Page(s): 811 - 821
    03/04/2022 Authors: Schoen MS; Singh RH
  • Using Informatics to Build a Digital Health Footprint of Patients Living With Inherited Metabolic Disorders Identified by Newborn Screening.
    J Public Health Manag Pract Volume: 28 Page(s): E340 - E344
    03/01/2022 Authors: Singh RH; Brown SJ; Hale PM; Narlow K; Gurung S; Salvatore ML; Tchamako JK
  • Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry.
    Mol Genet Metab Volume: 134 Page(s): 243 - 249
    11/01/2021 Authors: Kenneson A; Singh RH
  • Clinical geneticists' and primary care physicians' responses to hypothetical clinical scenarios
    Volume: 132 Page(s): S346 - S346
    04/01/2021 Authors: Kenneson A; Tina T; Rosen A; Singh R
  • Telemedicine challenges and strategies for the medical nutrition therapy of patients with inherited metabolic disorders during the COVID-19 pandemic
    Volume: 132 Page(s): S346 - S347
    04/01/2021 Authors: Singh R; Pringle T; Kenneson A
  • Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis.
    Nutrients Volume: 13
    03/23/2021 Authors: Ilgaz F; Marsaux C; Pinto A; Singh R; Rohde C; Karabulut E; Gkmen-zel H; Kuhn M; MacDonald A
  • Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.
    J Prim Care Community Health Volume: 12 Page(s): 21501327211046734
    01/01/2021 Authors: Truong TK; Kenneson A; Rosen AR; Singh RH
  • The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID-19 Pandemic.
    Front Nutr Volume: 8 Page(s): 637868
    01/01/2021 Authors: Singh RH; Pringle T; Kenneson A
  • Lipid changes in the metabolome of a single case study with maple syrup urine disease (MSUD) after five days of improved diet adherence of controlled branched-chain amino acids (BCAA).
    Mol Genet Metab Rep Volume: 25 Page(s): 100651
    12/01/2020 Authors: Douglas TD; Newby LK; Eckstrand J; Wixted D; Singh RH
  • Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.
    Orphanet J Rare Dis Volume: 15 Page(s): 279
    10/09/2020 Authors: Kenneson A; Singh RH
  • Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases.
    Mol Genet Metab Rep Volume: 24 Page(s): 100633
    09/01/2020 Authors: Kenneson A; Youngborg L; Singh RH
  • Laboratory monitoring of patients with hereditary tyrosinemia type I.
    Volume: 130 Page(s): 247 - 254
    08/01/2020 Authors: Schultz MJ; Netzel BC; Singh RH; Pino GB; Gavrilov DK; Oglesbee D; Raymond KM; Rinaldo P; Tortorelli S; Smith WE
  • Food insecurity in females with phenylketonuria.
    JIMD Rep Volume: 53 Page(s): 103 - 110
    05/01/2020 Authors: Coakley KE; Porter-Bolton S; Salvatore ML; Blair RB; Singh RH
  • Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
    Mol Genet Metab Volume: 129 Page(s): 20 - 25
    01/01/2020 Authors: Sadat R; Hall PL; Wittenauer AL; Vengoechea ED; Park K; Hagar AF; Singh R; Moore RH; Gambello MJ
  • Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
    Mol Genet Metab Volume: 131 Page(s): 23 - 37
    01/01/2020 Authors: Van Calcar SC; Sowa M; Rohr F; Beazer J; Setlock T; Weihe TU; Pendyal S; Wallace LS; Hansen JG; Stembridge A
  • Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.
    Genet Med Volume: 21 Page(s): 2683 - 2685
    12/01/2019 Authors: Fridovich-Keil JL; Carlock G; Coles CD; Lynch ME; Millians MN; Potter NL; Powell K; Richards P; Singh R; Wittenauer A
  • Large neutral amino acid status in association with P:T ratio and diet in adult and pediatric patients with phenylketonuria.
    JIMD Rep Volume: 50 Page(s): 50 - 59
    11/01/2019 Authors: Douglas TD; Nucci AM; Berry AM; Henes ST; Singh RH
  • FOOD INSECURITY IN FEMALES WITH PHENYLKETONURIA
    Volume: 127 Page(s): 262 - 262
    07/01/2019 Authors: Coakley K; Salvatore ML; Blair R; Porter-Bolton S; Singh R
  • THE BURDEN OF ILLNESS IN ADULTS WITH PHENYLKETONURIA (PKU): INTERIM ANALYSIS OF A CROSS-SECTIONAL STUDY CONDUCTED IN NORTH AMERICA AND EUROPE
    Volume: 127 Page(s): 259 - 259
    07/01/2019 Authors: Burton B; Longo N; Maillot F; Rahman Y; Singh R; Sivri HS; Stuy M; Vockley J; Van Backle J; Jha A
  • GMDI/SERN NUTRITION MANAGEMENT GUIDELINE FOR VLCAD: WHAT'S THE EVIDENCE?
    Volume: 127 Page(s): 232 - 233
    07/01/2019 Authors: Van Calcar S; Rohr F; Sowa M; Splett PL; Stembridge A; Osara Y; Singh RH
  • LABORATORY MONITORING OF PATIENTS WITH HEREDITARY TYROSINEMIA TYPE I
    Volume: 127 Page(s): 298 - 299
    07/01/2019 Authors: Schultz M; Netzel B; Singh R; Gavrilov D; Oglesbee D; Raymond K; Rinaldo P; Tortorelli S; Matern D
  • CREATION OF EVIDENCE AND CONSENSUS-BASED NUTRITION GUIDELINES IN IMD WITH LIMITED RESEARCH
    Volume: 127 Page(s): 232 - 232
    07/01/2019 Authors: Rohr F; Hollander S; Singh R
  • Functional Biomarkers of Vitamin B12 Status, Diet, and Metabolic Control in Women with Phenylketonuria (P24-005-19).
    Curr Dev Nutr Volume: 3
    06/01/2019 Authors: Schoen M; Coakley K; Douglas T; Singh R
  • Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
    Nutr Res Rev Volume: 32 Page(s): 70 - 78
    06/01/2019 Authors: MacDonald A; Singh RH; Rocha JC; van Spronsen FJ
  • Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach.
    Mol Genet Metab Volume: 126 Page(s): 341 - 354
    04/01/2019 Authors: Jurecki E; Ueda K; Frazier D; Rohr F; Thompson A; Hussa C; Obernolte L; Reineking B; Roberts AM; Yannicelli S
  • CREATION OF EVIDENCE AND CONSENSUS-BASED NUTRITION GUIDELINES IN IMD WITH LIMITED RESEARCH
    Volume: 126 Page(s): 272 - 272
    03/01/2019 Authors: Rohr F; Hollander S; Singh R
  • THE BURDEN OF ILLNESS IN ADULTS WITH PHENYLKETONURIA (PKU): INTERIM ANALYSIS OF A CROSS-SECTIONAL STUDY CONDUCTED IN NORTH AMERICA AND EUROPE
    Volume: 126 Page(s): 293 - 293
    03/01/2019 Authors: Burton B; Longo N; Maillot F; Rahman Y; Singh R; Sivri HS; Stuy M; Vockley J; Van Backle J; Jha A
  • FOOD INSECURITY IN FEMALES WITH PHENYLKETONURIA
    Volume: 126 Page(s): 295 - 295
    03/01/2019 Authors: Coakley K; Salvatore ML; Blair R; Porter-Bolton S; Singh R
  • GMDI/SERN NUTRITION MANAGEMENT GUIDELINE FOR VLCAD: WHAT'S THE EVIDENCE?
    Volume: 126 Page(s): 272 - 273
    03/01/2019 Authors: Van Calcar S; Rohr F; Sowa M; Splett PL; Stembridge A; Osara Y; Singh RH
  • The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.
    Mol Genet Metab Rep Volume: 17 Page(s): 46 - 52
    12/01/2018 Authors: Li H; Zhao L; Singh R; Ham JN; Fadoju DO; Bean LJH; Zhang Y; Xu Y; Xu HE; Gambello MJ
  • One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4).
    Orphanet J Rare Dis Volume: 13 Page(s): 192
    10/30/2018 Authors: Brantley KD; Douglas TD; Singh RH
  • Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis.
    Orphanet J Rare Dis Volume: 13 Page(s): 101
    06/26/2018 Authors: Montoya Parra GA; Singh RH; Cetinyurek-Yavuz A; Kuhn M; MacDonald A
  • Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry.
    Mol Genet Metab Rep Volume: 15 Page(s): 22 - 27
    06/01/2018 Authors: Kenneson A; Osara Y; Pringle T; Youngborg L; Singh RH
  • Caregiver Quality of Life with Tyrosinemia Type 1.
    J Genet Couns Volume: 27 Page(s): 723 - 731
    06/01/2018 Authors: Campbell H; Singh RH; Hall E; Ali N
  • Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
    Mol Genet Metab Volume: 123 Page(s): 428 - 432
    04/01/2018 Authors: Li H; Byers HM; Diaz-Kuan A; Vos MB; Hall PL; Tortorelli S; Singh R; Wallenstein MB; Allain M; Dimmock DP
  • PROTEIN INTAKE RECOMMENDATIONS FOR PROPIONIC ACIDEMIA IN THE EVIDENCE-BASED SERN-GMDI MANAGEMENT GUIDELINES
    Volume: 123 Page(s): 198 - +
    03/01/2018 Authors: Jurecki E; Ueda K; Frazier D; Rohr F; Thompson A; Osara Y; Stembridge A; Splett P; Singh R
  • FIRST REPORTED PEDIATRIC CASE OF GLUCAGON RECEPTOR DYSFUNCTION IDENTIFIED THROUGH NEWBORN SCREENING
    Volume: 123 Page(s): 207 - 208
    03/01/2018 Authors: Li H; Singh R; Bean L; Gambello MJ
  • Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
    Genet Med Volume: 19
    12/01/2017 Authors: Chinsky JM; Singh R; Ficicioglu C; van Karnebeek CDM; Grompe M; Mitchell G; Waisbren SE; Gucsavas-Calikoglu M; Wasserstein MP; Coakley K
  • Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
    Orphanet J Rare Dis Volume: 12 Page(s): 132
    07/19/2017 Authors: Osara Y; Coakley K; Devarajan A; Singh RH
  • Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency.
    Mol Genet Metab Volume: 121 Page(s): 104 - 110
    06/01/2017 Authors: Jani R; Coakley K; Douglas T; Singh R
  • Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.
    JIMD Rep Volume: 36 Page(s): 67 - 77
    01/01/2017 Authors: Coakley KE; Felner EI; Tangpricha V; Wilson PWF; Singh RH
  • 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
    Mol Genet Metab Volume: 119 Page(s): 75 - 82
    09/01/2016 Authors: Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA
  • Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
    Mol Genet Metab Volume: 118 Page(s): 72 - 83
    06/01/2016 Authors: Singh RH; Cunningham AC; Mofidi S; Douglas TD; Frazier DM; Hook DG; Jeffers L; McCune H; Moseley KD; Ogata B
  • Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.
    J Inherit Metab Dis Volume: 39 Page(s): 363 - 372
    05/01/2016 Authors: Coakley KE; Douglas TD; Goodman M; Ramakrishnan U; Dobrowolski SF; Singh RH
  • IDENTIFIYING PATIENTS WITH VLCAD DEFICIENCY PRESENTING WITH AN ABNORMAL NBS USING INTEGRATED METHODS
    Volume: 117 Page(s): 282 - 282
    03/01/2016 Authors: Sanchez RL; Singh RH; Gambello M; Wittenauer A; Narlow K; Hall P; Li H
  • IDENTIFIYING PATIENTS WITH VLCAD DEFICIENCY PRESENTING WITH AN ABNORMAL NBS USING INTEGRATED METHODS
    Molecular Genetics and Metabolism Volume: 117
    01/01/2016 Authors: Sanchez Russo R; Singh R; Gambello M; Wittenauer A; Narlow K; Hall P; Li H
  • The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.
    J Eval Clin Pract Volume: 21 Page(s): 1235 - 1243
    12/01/2015 Authors: Osara Y; Coakley K; Aisthorpe A; Stembridge A; Quirk M; Splett PL; Rohr F; Singh RH
  • Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey.
    Healthcare (Basel) Volume: 3 Page(s): 964 - 972
    10/15/2015 Authors: Bellcross CA; Harmond L; Floyd-Browning P; Singh R
  • Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
    Orphanet J Rare Dis Volume: 10 Page(s): 99
    08/20/2015 Authors: Chien Y-H; Abdenur JE; Baronio F; Bannick AA; Corrales F; Couce M; Donner MG; Ficicioglu C; Freehauf C; Frithiof D
  • 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 Volume: 114 Page(s): 415 - 424
    03/01/2015 Authors: Burton B; Grant M; Feigenbaum A; Singh R; Hendren R; Siriwardena K; Phillips J; Sanchez-Valle A; Waisbren S; Gillis J
  • Bone health in phenylketonuria: A systematic review and meta-analysis
    Volume: 114 Page(s): 364 - 364
    03/01/2015 Authors: Demirdas S; Coakley KE; Bisschop PH; Hollak CEM; Bosch AM; Singh RH
  • Protein substitute for children and adults with phenylketonuria.
    Cochrane Database Syst Rev Volume: 2015 Page(s): CD004731
    02/27/2015 Authors: Yi SHL; Singh RH
  • Bone health in phenylketonuria: a systematic review and meta-analysis.
    Orphanet J Rare Dis Volume: 10 Page(s): 17
    02/15/2015 Authors: Demirdas S; Coakley KE; Bisschop PH; Hollak CEM; Bosch AM; Singh RH
  • Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
    Mol Genet Metab Volume: 112 Page(s): 210 - 217
    07/01/2014 Authors: Frazier DM; Allgeier C; Homer C; Marriage BJ; Ogata B; Rohr F; Splett PL; Stembridge A; Singh RH
  • Phenylketonuria Scientific Review Conference: state of the science and future research needs.
    Mol Genet Metab Volume: 112 Page(s): 87 - 122
    06/01/2014 Authors: Camp KM; Parisi MA; Acosta PB; Berry GT; Bilder DA; Blau N; Bodamer OA; Brosco JP; Brown CS; Burlina AB
  • Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
    Genet Med Volume: 16 Page(s): 121 - 131
    02/01/2014 Authors: Singh RH; Rohr F; Frazier D; Cunningham A; Mofidi S; Ogata B; Splett PL; Moseley K; Huntington K; Acosta PB
  • Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.
    Health Qual Life Outcomes Volume: 11 Page(s): 218
    12/30/2013 Authors: Douglas TD; Ramakrishnan U; Kable JA; Singh RH
  • Insurance coverage of medical foods for treatment of inherited metabolic disorders.
    Genet Med Volume: 15 Page(s): 978 - 982
    12/01/2013 Authors: Berry SA; Kenney MK; Harris KB; Singh RH; Cameron CA; Kraszewski JN; Levy-Fisch J; Shuger JF; Greene CL; Lloyd-Puryear MA
  • Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines.
    J Eval Clin Pract Volume: 19 Page(s): 584 - 590
    08/01/2013 Authors: Singh RH; Rohr F; Splett PL
  • The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.
    Mol Genet Metab Volume: 109 Page(s): 243 - 250
    07/01/2013 Authors: Douglas TD; Jinnah HA; Bernhard D; Singh RH
  • Medical foods: inborn errors of metabolism and the reimbursement dilemma (vol 12, pg 364, 2010)
    GENETICS IN MEDICINE Volume: 15 Page(s): 161 - 161
    02/01/2013 Authors: Weaver MA; Johnson A; Singh RH; Wilcox WR; Lloyd-Puryear MA; Watson MS
  • Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuria.
    JIMD Rep Volume: 10 Page(s): 23 - 31
    01/01/2013 Authors: Douglas TD; Kennedy MJ; Quirk ME; Yi SH; Singh RH
  • Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
    Mol Genet Metab Volume: 107 Page(s): 31 - 36
    09/01/2012 Authors: Quirk ME; Dobrowolski SF; Nelson BE; Coffee B; Singh RH
  • Tracking long-term outcomes: Development of core data elements for phenylketonuria
    Volume: 105 Page(s): 353 - 354
    03/01/2012 Authors: Singh RH; Acosta P; Burton BK; Cunningham A; Jurecki E; McCune H; Mofidi S; Shankar PRV
  • Baseline findings in the first 60 subjects in pku ascend (016): A double-blind, placebo-controlled, randomized study to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with phenylketonuria (PKU)
    Volume: 105 Page(s): 349 - 349
    03/01/2012 Authors: Prasad S; Burton B; Feigenbaum A; Grant M; Hendren R; Mardach R; Phillips J; Sanchez-Valle A; Singh R; Siriwardena K
  • 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 Volume: 85 Page(s): 317 - 327
    12/01/2011 Authors: Yi SHL; Kable JA; Evatt ML; Singh RH
  • Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.
    Mol Genet Metab Volume: 104 Page(s): 485 - 491
    12/01/2011 Authors: Singh RH; Quirk ME
  • A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria.
    J Inherit Metab Dis Volume: 34 Page(s): 455 - 463
    04/01/2011 Authors: Yi SHL; Kable JA; Evatt ML; Singh RH
  • Nutritional management guidelines for MSUD: Delphi survey
    Volume: 102 Page(s): 281 - 281
    03/01/2011 Authors: Frazier D; Ogata B; Homer C; Otwell E; Rohr F; Singh R
  • Bone mineral density in a cohort of PKU patients: Comparison between responders and non-responders to Kuvan treatment
    Volume: 102 Page(s): 295 - 296
    03/01/2011 Authors: Konomi JV; Douglas T; Singh R
  • Development of nutrition guidelines for inborn errors of metabolism (IEM): Results of the first Delphi survey on propionic acidemia guidelines
    Volume: 102 Page(s): 294 - 294
    03/01/2011 Authors: Jurecki ER; Ueda K; Otwell E; Rohr F; Singh RH
  • Clinical correlations in nutrition and metabolism: Outcomes of a practical training course for genetic metabolic clinicians
    Volume: 102 Page(s): 270 - 270
    03/01/2011 Authors: Borlaza RR; Singh RH
  • Defining a semantic web architecture for long term follow up (LTFU) of children positively tested with new born screening (NBS) program
    Volume: 102 Page(s): 311 - 312
    03/01/2011 Authors: Shankar P; Navathe S; Malhothra K; Seth K; Singh RH
  • MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
    Indian J Hum Genet Volume: 17 Page(s): 29 - 32
    01/01/2011 Authors: Pervaiz MA; Kendal F; Hegde M; Singh RH
  • Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements
    GENETICS IN MEDICINE Volume: 12 Page(s): S261 - S266
    12/01/2010 Authors: Singh RH; Hinman AR
  • BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
    J Inherit Metab Dis Volume: 33 Page(s): 689 - 695
    12/01/2010 Authors: Singh RH; Quirk ME; Douglas TD; Brauchla MC
  • Newborn dried bloodspot screening: long-term follow-up activities and information system requirements.
    Genet Med Volume: 12 Page(s): S261 - S266
    12/01/2010 Authors: Singh RH; Hinman AR
  • ONE WEEK CAMP INTERVENTION DECREASES MARKER OF LIPID PEROXIDATION IN FEMALES WITH PHENYLKETONURIA
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 33 Page(s): S115 - S115
    08/01/2010 Authors: Singh RH; Quirk ME; Le NA
  • Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria.
    J Am Diet Assoc Volume: 110 Page(s): 922 - 925
    06/01/2010 Authors: Quirk ME; Schmotzer BJ; Singh RH
  • Medical foods: inborn errors of metabolism and the reimbursement dilemma.
    Genet Med Volume: 12 Page(s): 364 - 369
    06/01/2010 Authors: Weaver MA; Johnson A; Singh RH; Wilcox WR; Lloyd-Puryear MA; Watson MS
  • Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease.
    J Inherit Metab Dis Volume: 33 Page(s): 121 - 127
    04/01/2010 Authors: Mazer LM; Yi SHL; Singh RH
  • A FORMIMINOGLUTAMIC ACIDURIA PATIENT FOUND BY NEWBORN SCREENING AND THE ASSOCIATION OF FTCD GENOTYPE WITH CLINICAL PHENOTYPE
    Volume: 99 Page(s): 204 - 204
    03/01/2010 Authors: Zhang VW; Harper T; Lin N; Alexander CR; Singh RH; Hegde MR; He M
  • DEVELOPMENT OF NUTRITION GUIDELINES FOR INBORN ERRORS OF METABOLISM: PROGRESS WITH THE MSUD AND PPA GUIDELINES
    Volume: 99 Page(s): 195 - 196
    03/01/2010 Authors: Frazier DM; Ueda K; Singh RH
  • DOCOSAHEXAENOIC ACID AND NEUROPSYCHOLOGICAL OUTCOMES IN FEMALES OF REPRODUCTIVE AGE WITH PHENYLKETONURIA
    MOLECULAR GENETICS AND METABOLISM Volume: 99 Page(s): 197 - 198
    03/01/2010 Authors: Yi SH; Kable JA; Evatt ML; Singh RH
  • RELEVANCE OF DIETARY BEHAVIORS IN PHENYLKETONURIA PATIENTS WHEN EVALUATING BH4 (TETRAHYDROBIOPTERIN) TREATMENT RESPONSE
    Volume: 99 Page(s): 201 - 202
    03/01/2010 Authors: Douglas T; Singh RH
  • Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.
    J Pediatr Volume: 156 Page(s): 420 - 426
    03/01/2010 Authors: Powell K; Van Naarden Braun K; Singh R; Shapira SK; Olney RS; Yeargin-Allsopp M
  • GLUTATHIONE AND CYSTEINE REDOX POTENTIALS OF PHENYLKETONURIC PATIENTS INITIATING KUVAN (R) THERAPY
    Volume: 99 Page(s): 231 - 231
    03/01/2010 Authors: Quirk ME; Jones DP; Singh RH
  • Perspectives on dietary adherence among women with inborn errors of metabolism.
    J Am Diet Assoc Volume: 110 Page(s): 247 - 252
    02/01/2010 Authors: Kemper AR; Brewer CA; Singh RH
  • Long-term speech and language developmental issues among children with Duarte galactosemia.
    Genet Med Volume: 11 Page(s): 874 - 879
    12/01/2009 Authors: Powell KK; Van Naarden Braun K; Singh RH; Shapira SK; Olney RS; Yeargin-Allsopp M
  • MCT OIL BASED DIET REVERSES HYPERTROPHIC CARDIOMYOPATHY IN A PATIENT WITH VLCADD
    Volume: 98 Page(s): 16 - 16
    09/01/2009 Authors: Pervaiz MA; Kendall F; Singh RH
  • NEWBORN DRIED BLOODSPOT SCREENING: LONG-TERM FOLLOW-UP ACTIVITIES AND INFORMATION SYSTEM REQUIREMENTS
    Volume: 98 Page(s): 111 - 111
    09/01/2009 Authors: Hinman A; Singh RH
  • Newborn dried bloodspot screening: mapping the clinical and public health components and activities (vol 11, pg 418, 2009)
    GENETICS IN MEDICINE Volume: 11 Page(s): 594 - 594
    08/01/2009 Authors: Hinman AR; Mann MY; Singh RH
  • Newborn dried bloodspot screening: mapping the clinical and public health components and activities.
    Genet Med Volume: 11 Page(s): 418 - 424
    06/01/2009 Authors: Hinman AR; Mann MY; Singh RH; NDBS Business Process Analysis Workgroup
  • Resting energy expenditure of female adolescents with phenylketonuria: agreement of predictive equations
    FASEB JOURNAL Volume: 23
    04/01/2009 Authors: Quirk ME; Schmotzer B; Singh RH
  • Protein substitute for children and adults with phenylketonuria.
    Cochrane Database Syst Rev Page(s): CD004731
    10/08/2008 Authors: Yi SHL; Singh RH
  • Long term nutrition and dietary impact of tetrahydrobiopterin therapy in phenylketonuria
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 31 Page(s): 82 - 82
    08/01/2008 Authors: Singh RHS; Douglas TD
  • Standards of professional practice for genetic metabolic dietitians.
    Genet Med Volume: 10 Page(s): 290 - 293
    04/01/2008 Authors: Singh RH; Kaczmarczyk MM
  • Comparison of 5 anthropometric skinfold formulas to air displacement plethysmography (ADP) when predicting body fat composition in female adolescents with phenylketonuria (PKU)
    FASEB JOURNAL Volume: 22
    04/01/2008 Authors: Douglas TD; Kennedy M; Singh RH
  • Evaluation of performance metrics of TMS newborn screening in Georgia.
    Volume: 93 Page(s): 267 - 267
    03/01/2008 Authors: Yu C; Stembridge A; Page PZ; Fernhoff PM; Ledbetter DH; Singh RH
  • Protein requirements in patients with IEM: what's needed to support optimal growth and clinical outcome?
    Volume: 93 Page(s): 230 - 230
    03/01/2008 Authors: Singh RH
  • Phenylalanine (Phe) control in patients with phenylketonuria (PKU) consuming a novel metabolic medical food (Add Ins (TM)).
    Volume: 93 Page(s): 265 - 266
    03/01/2008 Authors: Shaw H; Singh RH; Yannicelli S
  • Essential fatty acid status in treated patients with MSUD.
    Volume: 93 Page(s): 257 - 257
    03/01/2008 Authors: Mazer LM; Yi SHL; Singh RH
  • The long term impact of tetrahydrobiopterin therapy in phenylketonuria: Dietary and nutritional implications.
    Volume: 93 Page(s): 262 - 262
    03/01/2008 Authors: Singh RH
  • Long-term developmental outcomes in duarte galactosemia.
    Volume: 93 Page(s): 261 - 261
    03/01/2008 Authors: Powell KK; Van Naarden Braun K; Singh RH; Olney RS; Shapira SK; Yeargin-Allsopp M
  • Nutritional management of patients with urea cycle disorders.
    J Inherit Metab Dis Volume: 30 Page(s): 880 - 887
    11/01/2007 Authors: Singh RH
  • Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods.
    Genet Med Volume: 9 Page(s): 761 - 765
    11/01/2007 Authors: Gregory CO; Yu C; Singh RH
  • Phenylalanine (PHE) control in patients with phenylketonuria (PKU) consuming a novel metabolic medical food (add ins)
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 30 Page(s): 21 - 21
    08/01/2007 Authors: Shaw HJ; Singh R; Yannicelli S
  • Relationship between medical food type consumption and plasma polyunsaturated fatty acid status of females of childbearing age with phenylketonuria
    Volume: 21 Page(s): A706 - A706
    04/01/2007 Authors: Yi SHL; Moser AB; Singh RH
  • Dean Jay Danner, Ph.D. (September 26, 1941-January 2, 2007) - In memoriam
    MOLECULAR GENETICS AND METABOLISM Volume: 90 Page(s): 266 - 267
    03/01/2007 Authors: Singh RH
  • Comparison of phe monitoring methods for dietary compliance
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 29 Page(s): 38 - 38
    08/01/2006 Authors: Singh RH; Gregory CO; Kennedy MJ; Yu C
  • Potassium retention in patients treated for argininosuccinate lyase deficiency
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 29 Page(s): 48 - 48
    08/01/2006 Authors: Singh RH; Acosta PB; Kennedy MP; Longo N; Elsas LJ
  • Evaluation of copper toxicity in isolated human peripheral blood mononuclear cells and it's attenuation by zinc: ex vivo.
    Mol Cell Biochem Volume: 282 Page(s): 13 - 21
    01/01/2006 Authors: Singh RP; Kumar S; Nada R; Prasad R
  • Urea cycle disorders: clinical presentation outside the newborn period.
    Crit Care Clin Volume: 21 Page(s): S9 - 17
    10/01/2005 Authors: Smith W; Kishnani PS; Lee B; Singh RH; Rhead WJ; Sniderman King L; Smith M; Summar M
  • Nutritional management of urea cycle disorders.
    Crit Care Clin Volume: 21 Page(s): S27 - S35
    10/01/2005 Authors: Singh RH; Rhead WJ; Smith W; Lee B; Sniderman King L; Summar M
  • Unmasked adult-onset urea cycle disorders in the critical care setting.
    Crit Care Clin Volume: 21 Page(s): S1 - S8
    10/01/2005 Authors: Summar ML; Barr F; Dawling S; Smith W; Lee B; Singh RH; Rhead WJ; Sniderman King L; Christman BW
  • Considerations in the difficult-to-manage urea cycle disorder patient.
    Crit Care Clin Volume: 21 Page(s): S19 - S25
    10/01/2005 Authors: Lee B; Singh RH; Rhead WJ; Sniderman King L; Smith W; Summar ML
  • Genetic counseling issues in urea cycle disorders.
    Crit Care Clin Volume: 21 Page(s): S37 - S44
    10/01/2005 Authors: Sniderman King L; Singh RH; Rhead WJ; Smith W; Lee B; Summar ML
  • Comprehensive interventions to improve diet compliance in patients with phenyl ketonuria.
    MOLECULAR GENETICS AND METABOLISM Volume: 84 Page(s): 237 - 237
    03/01/2005 Authors: Singh RH; Kennedy MJ; Kable J
  • MPKU OUTCOMES AND DIET PRACTICES: EFFECT OF CAMP EDUCATION AND SOCIAL SUPPORT INTERVENTIONS
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 28 Page(s): 40 - 40
    01/01/2005 Authors: Singh RH; Kennedy MJ; Kable J; Jonas CR
  • Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
    Am J Med Genet A Volume: 126A Page(s): 150 - 155
    04/15/2004 Authors: Iacobazzi V; Pasquali M; Singh R; Matern D; Rinaldo P; Amat di San Filippo C; Palmieri F; Longo N
  • Homocitrullinuria revisited: evaluating the significance of homocitrulline excretion in disease and normal metabolism
    Volume: 81 Page(s): 179 - 179
    03/01/2004 Authors: Sharer JD; Harper TH; Plotkina N; Singh RH; Yu CL
  • 10 years' diagnostic experience in galactosemia caused by galactose-1-phosphate uridyltransferase deficiency using combined biochemical and molecular approaches.
    Volume: 81 Page(s): 182 - 183
    03/01/2004 Authors: Yu CL; Dembure PP; Muralidharan K; Kiros G; Hjelm NL; Langley S; Singh RH; Elsas LJ
  • The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings.
    J Inherit Metab Dis Volume: 27 Page(s): 145 - 155
    01/01/2004 Authors: Rohr F; Munier A; Sullivan D; Bailey I; Gennaccaro M; Levy H; Brereton H; Gleason S; Goss B; Lesperance E
  • Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors.
    Genet Med Volume: 6 Page(s): 96 - 101
    01/01/2004 Authors: Acosta PB; Yannicelli S; Singh RH; Elsas LJ; Mofidi S; Steiner RD
  • Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
    Genet Med Volume: 6 Page(s): 90 - 95
    01/01/2004 Authors: Singh RH; Kruger WD; Wang L; Pasquali M; Elsas LJ
  • Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.
    J Inherit Metab Dis Volume: 27 Page(s): 691 - 692
    01/01/2004 Authors: Longo N; Fukao T; Singh R; Pasquali M; Barrios RG; Kondo N; Gibson KM
  • Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
    Hum Mutat Volume: 22 Page(s): 434 - 441
    12/01/2003 Authors: Kruger WD; Wang L; Jhee KH; Singh RH; Elsas LJ
  • Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy.
    J Am Diet Assoc Volume: 103 Page(s): 1167 - 1173
    09/01/2003 Authors: Acosta PB; Yannicelli S; Singh R; Mofidi S; Steiner R; DeVincentis E; Jurecki E; Bernstein L; Gleason S; Chetty M
  • Verbal dyspraxia and galactosemia.
    Pediatr Res Volume: 53 Page(s): 396 - 402
    03/01/2003 Authors: Webb AL; Singh RH; Kennedy MJ; Elsas LJ
  • Management of fatty acid oxidation disorders: a survey of current treatment strategies.
    J Am Diet Assoc Volume: 102 Page(s): 1800 - 1803
    12/01/2002 Authors: Solis JO; Singh RH
  • Diagnosis and management of defects of mitochondrial beta-oxidation.
    Curr Opin Clin Nutr Metab Care Volume: 5 Page(s): 601 - 609
    11/01/2002 Authors: Vockley J; Singh RH; Whiteman DAH
  • Predictors of verbal dyspraxia in galactosemia.
    Volume: 71 Page(s): 423 - 423
    10/01/2002 Authors: Elsas LJ; Webb AL; Singh RH; Kennedy MJ
  • Barriers to dietary control among pregnant women with phenylketonuria - United States, 1998-2000 (Reprinted from MMWR, vol 51, pg 117-120, 2002)
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION Volume: 287 Page(s): 1258 - 1259
    03/13/2002 Authors: Fernhoff PM; Singh R; Waisbren S; Rohr F; Frazier DM; Rasmussen SA; Kenneson AA; Honein MA; Gwinn ML; Brown AS
  • Barriers to successful dietary control among pregnant women with phenylketonuria.
    Genet Med Volume: 4 Page(s): 84 - 89
    01/01/2002 Authors: Brown AS; Fernhoff PM; Waisbren SE; Frazier DM; Singh R; Rohr F; Morris JM; Kenneson A; MacDonald P; Gwinn M
  • Genotype-phenotype correlations in cystathionine beta synthase deficiency.
    AMERICAN JOURNAL OF HUMAN GENETICS Volume: 69 Page(s): 481 - 481
    10/01/2001 Authors: Steen MT; Singh RH; Pasquali M; Elsas LJ; Kruger WD
  • Barriers to successful dietary control among pregnant women with phenylketonuria (PKU).
    AMERICAN JOURNAL OF HUMAN GENETICS Volume: 69 Page(s): 486 - 486
    10/01/2001 Authors: Brown AS; Fernhoff P; Waisbren S; Frazier D; Singh R; Rohr F; Morris J; Kenneson A; MacDonald P; Gwinn M
  • Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome.
    J Inherit Metab Dis Volume: 24 Page(s): 546 - 550
    10/01/2001 Authors: Longo N; Singh R; Elsas LJ
  • Intake and blood levels of fatty acids in treated patients with phenylketonuria.
    J Pediatr Gastroenterol Nutr Volume: 33 Page(s): 253 - 259
    09/01/2001 Authors: Acosta PB; Yannicelli S; Singh R; Eisas LJ; Kennedy MJ; Bernstein L; Rohr F; Trahms C; Koch R; Breck J
  • Consensus statement from a conference for the management of patients with urea cycle disorders.
    J Pediatr Volume: 138 Page(s): S1 - S5
    01/01/2001 Authors: Urea Cycle Disorders Conference group.
  • Risk factors for premature ovarian failure in females with galactosemia.
    J Pediatr Volume: 137 Page(s): 833 - 841
    12/01/2000 Authors: Guerrero NV; Singh RH; Manatunga A; Berry GT; Steiner RD; Elsas LJ
  • Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
    Pediatr Res Volume: 48 Page(s): 323 - 328
    09/01/2000 Authors: Berry GT; Singh RH; Mazur AT; Guerrero N; Kennedy MJ; Chen J; Reynolds R; Palmieri MJ; Klein PD; Segal S
  • 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 Volume: 100 Page(s): 797 - 803
    07/01/2000 Authors: Singh RH; Kable JA; Guerrero NV; Sullivan KM; Elsas LJ
  • Outcomes analysis of verbal dyspraxia in classic galactosemia.
    Genet Med Volume: 2 Page(s): 142 - 148
    01/01/2000 Authors: Robertson A; Singh RH; Guerrero NV; Hundley M; Elsas LJ
  • Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
    Metabolism Volume: 48 Page(s): 1294 - 1302
    10/01/1999 Authors: Palmieri M; Mazur A; Berry GT; Ning C; Wehrli S; Yager C; Reynolds R; Singh R; Muralidharan K; Langley S
  • Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency.
    Genet Med Volume: 1 Page(s): 34 - 39
    01/01/1998 Authors: Scaglia F; Wang Y; Singh RH; Dembure PP; Pasquali M; Fernhoff PM; Longo N
  • Functional characterization of the carnitine transporter defective in primary carnitine deficiency
    AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A261 - A261
    10/01/1997 Authors: Scaglia F; Wang Y; Singh RH; Dembure PP; Pasquali M; Evinger JD; Bagnasco S; Fernhoff PM; Longo N
  • Quantitative assessment of whole body galactose metabolism in galactosemic patients.
    Eur J Pediatr Volume: 156 Suppl 1 Page(s): S43 - S49
    08/01/1997 Authors: Berry GT; Nissim I; Gibson JB; Mazur AT; Lin Z; Elsas LJ; Singh RH; Klein PD; Segal S
  • Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
    Pediatrics Volume: 97 Page(s): 512 - 516
    04/01/1996 Authors: Eisensmith RC; Martinez DR; Kuzmin AI; Goltsov AA; Brown A; Singh R; Elsas LJ II; Woo SL
  • A prevalent mutation for galactosemia among black Americans.
    J Pediatr Volume: 128 Page(s): 89 - 95
    01/01/1996 Authors: Lai K; Langley SD; Singh RH; Dembure PP; Hjelm LN; Elsas LJ
  • In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
    Biochem Mol Med Volume: 56 Page(s): 158 - 165
    12/01/1995 Authors: Berry GT; Nissim I; Mazur AT; Elsas LJ; Singh RH; Klein PD; Gibson JB; Lin Z; Segal S
  • MOLECULAR CHARACTERIZATION OF NEGRO VARIANT OF GALACTOSEMIA
    AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Page(s): 1036 - 1036
    10/01/1995 Authors: LAI K; LANGLEY SD; SINGH R; DEMBURE PP; HJELM N; ELSAS LJ
  • IN-VIVO OXIDATION OF [C-13]GALACTOSE IN GALACTOSEMIC PATIENTS WITH COMPLICATIONS AND THE Q188R ALLELE
    PEDIATRIC RESEARCH Volume: 37 Page(s): A147 - A147
    04/01/1995 Authors: BERRY GT; MAZUR AT; SINGH R; ELSAS LJ; KLEIN PD; NISSIM I; GIBSON JB; SEGAL S
  • Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
    Am J Hum Genet Volume: 56 Page(s): 630 - 639
    03/01/1995 Authors: Elsas LJ; Langley S; Steele E; Evinger J; Fridovich-Keil JL; Brown A; Singh R; Fernhoff P; Hjelm LN; Dembure PP
  • Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I.
    J Clin Endocrinol Metab Volume: 79 Page(s): 799 - 805
    09/01/1994 Authors: Longo N; Singh R; Griffin LD; Langley SD; Parks JS; Elsas LJ
  • DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAYS OF METABOLIC ETIOLOGY
    AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Page(s): 402 - 402
    09/01/1993 Authors: BLACKSTON RD; SINGH R; KRUSE B; DEMBURE P; FERNHOFF PM; ELSAS LJ
  • A COMMON MUTATION CAUSING THE DUARTE, GALACTOSEMIA ALLELE
    AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Page(s): 900 - 900
    09/01/1993 Authors: ELSAS LJ; DEMBURE PP; BROWN AL; SINGH R; FERNHOFF PM; LANGLEY S; HJELM N; GRIFFIN LD; PAULK ME; FRIDOVICHKEIL J
  • Serum phospholipase A2 enzyme activity and immunoreactivity in a prospective analysis of patients with septic shock.
    Life Sci Volume: 50 Page(s): 807 - 811
    01/01/1992 Authors: Vadas P; Scott K; Smith G; Rajkovic I; Stefanski E; Schouten BD; Singh R; Pruzanski W
  • A randomized, controlled trial of treatment of alcoholic hepatitis with parenteral nutrition and oxandrolone. II. Short-term effects on nitrogen metabolism, metabolic balance, and nutrition.
    Am J Gastroenterol Volume: 86 Page(s): 1209 - 1218
    09/01/1991 Authors: Bonkovsky HL; Singh RH; Jafri IH; Fiellin DA; Smith GS; Simon D; Cotsonis GA; Slaker DP
  • TREATMENT OF ALCOHOLIC HEPATITIS WITH PARENTERAL-NUTRITION AND OXANDROLONE - A RANDOMIZED CONTROLLED TRIAL .2. EFFECTS ON NITROGEN-METABOLISM
    HEPATOLOGY Volume: 12 Page(s): 978 - 978
    10/01/1990 Authors: BONKOVSKY H; JAFRI I; SINGH R; COTSONIS G; SLAKER D
  • Subchronic malathion treatment effects on rat intestinal functions.
    Bull Environ Contam Toxicol Volume: 33 Page(s): 289 - 294
    09/01/1984 Authors: Wali RK; Singh R; Dudeja PK; Sarkar AK; Mahmood A
  • Comparative studies on the effect of a single oral dose of DDT or malathion on intestinal uptake of nutrients and brush border membrane enzymes in guinea pigs.
    Indian J Gastroenterol Volume: 3 Page(s): 151 - 153
    07/01/1984 Authors: Singh R; Wali RK; Nagpaul JP; Dudeja PK; Mahmood A
  • FURTHER STUDIES ON ANTIARTHRITIC EFFECT OF AN INDIGENOUS DRUG DALBERGIA LANCEOLARIA
    INDIAN JOURNAL OF MEDICAL RESEARCH Volume: 54 Page(s): 363 - &
    01/01/1966 Authors: SINGH RH; CHATURVE GN
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