Year |
Citation |
Score |
2020 |
Douglas TD, Newby LK, Eckstrand J, Wixted D, Singh RH. 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). Molecular Genetics and Metabolism Reports. 25: 100651. PMID 33088714 DOI: 10.1016/j.ymgmr.2020.100651 |
0.728 |
|
2020 |
Schultz MJ, Netzel BC, Singh RH, Pino GB, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Tortorelli S, Smith WE, Matern D. Laboratory monitoring of patients with hereditary tyrosinemia type I. Molecular Genetics and Metabolism. PMID 32546364 DOI: 10.1016/J.Ymgme.2020.06.001 |
0.308 |
|
2019 |
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. Jimd Reports. 50: 50-59. PMID 31741827 DOI: 10.1002/jmd2.12076 |
0.751 |
|
2019 |
Douglas T, Singh R. Elevated Urine Creatinine in Relation to Protein Intake in Adolescent and Adult Females with Phenylketonuria (PKU) with Comparison to NHANES (P08-060-19) Current Developments in Nutrition. 3. DOI: 10.1093/cdn/nzz044.p08-060-19 |
0.748 |
|
2018 |
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. 13: 192. PMID 30373601 DOI: 10.1186/S13023-018-0923-2 |
0.752 |
|
2018 |
Li H, Zhao L, Singh R, Ham JN, Fadoju DO, Bean LJH, Zhang Y, Xu Y, Xu HE, Gambello MJ. The first pediatric case of glucagon receptor defect due to biallelic mutations in is identified by newborn screening of elevated arginine. Molecular Genetics and Metabolism Reports. 17: 46-52. PMID 30294546 DOI: 10.1016/J.Ymgmr.2018.09.006 |
0.342 |
|
2018 |
MacDonald A, Singh RH, Rocha JC, van Spronsen FJ. Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria. Nutrition Research Reviews. 1-9. PMID 30284526 DOI: 10.1017/S0954422418000173 |
0.372 |
|
2018 |
Kenneson A, Osara Y, Pringle T, Youngborg L, Singh RH. Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry. Molecular Genetics and Metabolism Reports. 15: 22-27. PMID 30023285 DOI: 10.1016/J.Ymgmr.2018.01.001 |
0.37 |
|
2018 |
Montoya Parra GA, Singh RH, Cetinyurek-Yavuz A, Kuhn M, MacDonald A. Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis. Orphanet Journal of Rare Diseases. 13: 101. PMID 29941009 DOI: 10.1186/S13023-018-0839-X |
0.344 |
|
2017 |
Jani R, Coakley K, Douglas T, Singh R. Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency. Molecular Genetics and Metabolism. PMID 28465125 DOI: 10.1016/J.Ymgme.2017.04.012 |
0.76 |
|
2016 |
Singh RH, Cunningham AC, Mofidi S, Douglas TD, Frazier DM, Hook DG, Jeffers L, McCune H, Moseley KD, Ogata B, Pendyal S, Skrabal J, Splett PL, Stembridge A, Wessel A, et al. Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach. Molecular Genetics and Metabolism. PMID 27211276 DOI: 10.1016/J.Ymgme.2016.04.008 |
0.74 |
|
2016 |
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. Journal of Inherited Metabolic Disease. 39: 363-72. PMID 26883219 DOI: 10.1007/S10545-015-9910-0 |
0.758 |
|
2016 |
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 Journal of Inherited Metabolic Disease. 1-10. DOI: 10.1007/s10545-015-9910-0 |
0.715 |
|
2015 |
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, ... ... Singh R, et al. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet Journal of Rare Diseases. 10: 99. PMID 26289392 DOI: 10.1186/S13023-015-0321-Y |
0.326 |
|
2015 |
Osara Y, Coakley K, 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. Journal of Evaluation in Clinical Practice. PMID 26268585 DOI: 10.1111/Jep.12428 |
0.68 |
|
2015 |
Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Bone health in phenylketonuria: a systematic review and meta-analysis. Orphanet Journal of Rare Diseases. 10: 17. PMID 25758373 DOI: 10.1186/S13023-015-0232-Y |
0.317 |
|
2015 |
Yi SH, Singh RH. Protein substitute for children and adults with phenylketonuria. The Cochrane Database of Systematic Reviews. 2: CD004731. PMID 25723866 DOI: 10.1002/14651858.Cd004731.Pub4 |
0.701 |
|
2014 |
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, ... ... Singh RH, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Molecular Genetics and Metabolism. 112: 87-122. PMID 24667081 DOI: 10.1016/J.Ymgme.2014.02.013 |
0.322 |
|
2014 |
Singh RH, Rohr F, Frazier D, Cunningham A, Mofidi S, Ogata B, Splett PL, Moseley K, Huntington K, Acosta PB, Vockley J, Van Calcar SC. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 121-31. PMID 24385075 DOI: 10.1038/Gim.2013.179 |
0.374 |
|
2014 |
Coakley K, Douglas T, Singh R. Phenylketonuria is a condition of inflammation associated with high BMI and low bone turnover (1034.2) The Faseb Journal. 28. DOI: 10.1096/Fasebj.28.1_Supplement.1034.2 |
0.746 |
|
2013 |
Douglas TD, Ramakrishnan U, Kable JA, Singh RH. Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride. Health and Quality of Life Outcomes. 11: 218. PMID 24373161 DOI: 10.1186/1477-7525-11-218 |
0.753 |
|
2013 |
Douglas TD, Jinnah HA, Bernhard D, Singh RH. The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Molecular Genetics and Metabolism. 109: 243-50. PMID 23712020 DOI: 10.1016/J.Ymgme.2013.04.017 |
0.743 |
|
2013 |
Berry SA, Kenney MK, Harris KB, Singh RH, Cameron CA, Kraszewski JN, Levy-Fisch J, Shuger JF, Greene CL, Lloyd-Puryear MA, Boyle CA. Insurance coverage of medical foods for treatment of inherited metabolic disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 978-82. PMID 23598714 DOI: 10.1038/Gim.2013.46 |
0.329 |
|
2013 |
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 Reports. 10: 23-31. PMID 23430796 DOI: 10.1007/8904_2012_196 |
0.726 |
|
2013 |
Singh RH, Rohr F, Splett PL. Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. Journal of Evaluation in Clinical Practice. 19: 584-90. PMID 22168925 DOI: 10.1111/J.1365-2753.2011.01807.X |
0.3 |
|
2012 |
Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH. Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Molecular Genetics and Metabolism. 107: 31-6. PMID 22841515 DOI: 10.1016/J.Ymgme.2012.07.008 |
0.684 |
|
2011 |
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, Leukotrienes, and Essential Fatty Acids. 85: 317-27. PMID 22000478 DOI: 10.1016/J.Plefa.2011.09.004 |
0.686 |
|
2011 |
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. 104: 485-91. PMID 21986447 DOI: 10.1016/J.Ymgme.2011.09.009 |
0.736 |
|
2011 |
Pervaiz MA, Kendal F, Hegde M, Singh RH. MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian Journal of Human Genetics. 17: 29-32. PMID 21814341 DOI: 10.4103/0971-6866.82190 |
0.342 |
|
2011 |
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. Journal of Inherited Metabolic Disease. 34: 455-63. PMID 21305356 DOI: 10.1007/S10545-011-9277-9 |
0.712 |
|
2010 |
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. Journal of Inherited Metabolic Disease. 33: 689-95. PMID 20941642 DOI: 10.1007/S10545-010-9224-1 |
0.757 |
|
2010 |
Quirk ME, Schmotzer BJ, Singh RH. Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. Journal of the American Dietetic Association. 110: 922-5. PMID 20497783 DOI: 10.1016/J.Jada.2010.03.015 |
0.682 |
|
2010 |
Weaver MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS. Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 364-9. PMID 20445457 DOI: 10.1097/Gim.0B013E3181Deb2F0 |
0.344 |
|
2010 |
Mazer LM, Yi SH, Singh RH. Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease. Journal of Inherited Metabolic Disease. 33: 121-7. PMID 20217236 DOI: 10.1007/S10545-010-9066-X |
0.724 |
|
2010 |
Kemper AR, Brewer CA, Singh RH. Perspectives on dietary adherence among women with inborn errors of metabolism. Journal of the American Dietetic Association. 110: 247-52. PMID 20102852 DOI: 10.1016/J.Jada.2009.10.030 |
0.343 |
|
2008 |
Yi S, Singh RH. Protein substitute for children and adults with phenylketonuria. The Cochrane Database of Systematic Reviews. CD004731. PMID 18843667 DOI: 10.1002/14651858.CD004731.pub3 |
0.681 |
|
2008 |
Singh RH, Jurecki E, Rohr F. Recommendations for Personalized Dietary Adjustments Based on Patient Response to Tetrahydrobiopterin (BH4) in Phenylketonuria Topics in Clinical Nutrition. 23: 149-157. DOI: 10.1097/01.Tin.0000318911.54358.A1 |
0.339 |
|
2008 |
Douglas TD, Kennedy M, Singh RH. Comparison of 5 anthropometric skinfold formulas to air displacement plethysmography (ADP) when predicting body fat composition in female adolescents with phenylketonuria (PKU) The Faseb Journal. 22: 743-743. DOI: 10.1096/Fasebj.22.2_Supplement.743 |
0.739 |
|
2007 |
Singh RH. Nutritional management of patients with urea cycle disorders. Journal of Inherited Metabolic Disease. 30: 880-7. PMID 18034368 DOI: 10.1007/S10545-007-0718-4 |
0.334 |
|
2007 |
Gregory CO, Yu C, Singh RH. Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 761-5. PMID 18007145 DOI: 10.1097/Gim.0B013E318159A355 |
0.302 |
|
2007 |
Leatham Yi SH, Moser AB, Singh RH. Relationship between medical food type consumption and plasma polyunsaturated fatty acid status of females of childbearing age with phenylketonuria The Faseb Journal. 21. DOI: 10.1096/Fasebj.21.5.A706-A |
0.351 |
|
2005 |
Singh RH, Rhead WJ, Smith W, Lee B, Sniderman King L, Summar M. Nutritional management of urea cycle disorders. Critical Care Clinics. 21: S27-35. PMID 16227113 DOI: 10.1016/J.Ccc.2005.08.003 |
0.343 |
|
2005 |
Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML. Considerations in the difficult-to-manage urea cycle disorder patient. Critical Care Clinics. 21: S19-25. PMID 16227112 DOI: 10.1016/J.Ccc.2005.05.001 |
0.352 |
|
2004 |
Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM. Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation Journal of Inherited Metabolic Disease. 27: 691-692. PMID 15669687 DOI: 10.1023/B:Boli.0000043023.57321.18 |
0.302 |
|
2004 |
Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. American Journal of Medical Genetics. Part A. 126: 150-5. PMID 15057979 DOI: 10.1002/Ajmg.A.20573 |
0.315 |
|
2004 |
Singh RH, Kruger WD, Wang L, Pasquali M, Elsas LJ. Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 6: 90-5. PMID 15017331 DOI: 10.1097/01.Gim.0000117334.84388.F4 |
0.33 |
|
2003 |
Acosta PB, Yannicelli S, Singh R, Mofidi S, Steiner R, DeVincentis E, Jurecki E, Bernstein L, Gleason S, Chetty M, Rouse B. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. Journal of the American Dietetic Association. 103: 1167-73. PMID 12963945 DOI: 10.1016/S0002-8223(03)00983-0 |
0.317 |
|
2003 |
Webb AL, Singh RH, Kennedy MJ, Elsas LJ. Verbal dyspraxia and galactosemia. Pediatric Research. 53: 396-402. PMID 12595586 DOI: 10.1203/01.Pdr.0000049666.19532.1B |
0.335 |
|
2002 |
Solis JO, Singh RH. Management of fatty acid oxidation disorders: a survey of current treatment strategies. Journal of the American Dietetic Association. 102: 1800-3. PMID 12487544 DOI: 10.1016/S0002-8223(02)90386-X |
0.321 |
|
2002 |
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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 4: 84-9. PMID 11882785 DOI: 10.1097/00125817-200203000-00006 |
0.301 |
|
2001 |
Acosta PB, Yannicelli S, Singh R, Eisas LJ, Kennedy MJ, Bernstein L, Rohr F, Trahms C, Koch R, Breck J. Intake and blood levels of fatty acids in treated patients with phenylketonuria. Journal of Pediatric Gastroenterology and Nutrition. 33: 253-9. PMID 11593118 DOI: 10.1097/00005176-200109000-00005 |
0.362 |
|
2000 |
Singh RH, Kable JA, Guerrero NV, Sullivan KM, Elsas LJ. Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls. Journal of the American Dietetic Association. 100: 797-803. PMID 10916518 DOI: 10.1016/S0002-8223(00)00232-7 |
0.34 |
|
1999 |
Singh R, Dembure P, Eisensmith R, Guerrero N, Sullivan K, Elsas L. Pretreatment Serum Phenylalanine Levels As a Predictor of the Severity of the Mutation in the Phenylalanine Hydroxylase Gene and Phenylalanine Tolerance in Patients with Phenylketonuria Journal of the American Dietetic Association. 99: A15. DOI: 10.1016/S0002-8223(99)00450-2 |
0.33 |
|
1995 |
Berry GT, Nissim I, Mazur AT, Elsas LJ, Singh RH, Klein PD, Gibson JB, Lin Z, Segal S. In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. Biochemical and Molecular Medicine. 56: 158-65. PMID 8825079 DOI: 10.1006/Bmme.1995.1071 |
0.3 |
|
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