Rani H Singh

Rani H Singh

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Rani H Singh

Rani H Singh

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Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.

Nutr Res Rev 2019 Jun 4;32(1):70-78. Epub 2018 Oct 4.

7Division of Metabolic Diseases,Beatrix Children's Hospital,University Medical Center Groningen,University of Groningen,Groningen,the Netherlands.

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https://www.cambridge.org/core/product/identifier/S095442241
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http://dx.doi.org/10.1017/S0954422418000173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536823PMC
June 2019

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4).

Orphanet J Rare Dis 2018 10 30;13(1):192. Epub 2018 Oct 30.

Department of Human Genetics, Metabolic Nutrition Program, Emory University School of Medicine, Atlanta, GA, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0923-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206913PMC
October 2018

Caregiver Quality of Life with Tyrosinemia Type 1.

J Genet Couns 2018 06 6;27(3):723-731. Epub 2017 Nov 6.

Department of Human Genetics, Emory University, 2165 North Decatur Road, Atlanta, GA, 30033, USA.

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http://dx.doi.org/10.1007/s10897-017-0157-9DOI Listing
June 2018

Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis.

Orphanet J Rare Dis 2018 06 26;13(1):101. Epub 2018 Jun 26.

Department of Metabolic Diseases, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1186/s13023-018-0839-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020171PMC
June 2018

Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry.

Mol Genet Metab Rep 2018 Jun 28;15:22-27. Epub 2018 Jan 28.

Metabolic Genetics and Nutrition Program, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2018.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047058PMC
June 2018

Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.

JIMD Rep 2017 28;36:67-77. Epub 2017 Jan 28.

Metabolic Nutrition Program, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/8904_2016_39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680279PMC
January 2017

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.

Mol Genet Metab 2016 06 17;118(2):72-83. Epub 2016 Apr 17.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.04.008DOI Listing
June 2016

Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.

J Inherit Metab Dis 2016 05 16;39(3):363-372. Epub 2016 Feb 16.

Doctoral Program in Nutrition and Health Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/s10545-015-9910-0DOI Listing
May 2016

The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.

J Eval Clin Pract 2015 Dec 12;21(6):1235-43. Epub 2015 Aug 12.

Department of Human Genetics, Emory University, School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1111/jep.12428DOI Listing
December 2015

Protein substitute for children and adults with phenylketonuria.

Cochrane Database Syst Rev 2015 Feb 27(2):CD004731. Epub 2015 Feb 27.

Emory Genetics Metabolic Nutrition Program, 2165 N. Decatur Road, Decatur, Georgia, USA, 30033.

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http://dx.doi.org/10.1002/14651858.CD004731.pub4DOI Listing
February 2015

Bone health in phenylketonuria: a systematic review and meta-analysis.

Orphanet J Rare Dis 2015 Feb 15;10:17. Epub 2015 Feb 15.

Metabolic Nutrition and Genetics Program Department of Human Genetics, Emory University Atlanta GA United States, Atlanta, GA, USA.

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http://dx.doi.org/10.1186/s13023-015-0232-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340652PMC
February 2015

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

Mol Genet Metab 2014 Jul 17;112(3):210-7. Epub 2014 May 17.

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.05.006DOI Listing
July 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.

Genet Med 2014 Feb 2;16(2):121-31. Epub 2014 Jan 2.

Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

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http://dx.doi.org/10.1038/gim.2013.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918542PMC
February 2014

Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.

Health Qual Life Outcomes 2013 Dec 30;11:218. Epub 2013 Dec 30.

Metabolic Nutrition Program, Division of Medical Genetics, Emory Department of Human Genetics, 2165 North Decatur Road, Decatur, GA 30033, USA.

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http://dx.doi.org/10.1186/1477-7525-11-218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880979PMC
December 2013

Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines.

J Eval Clin Pract 2013 Aug 13;19(4):584-90. Epub 2011 Dec 13.

Department of Human Genetics, Emory University, School of Medicine, Metabolic Nutrition Program, PD Southeastern NBS and Genetics Collaborative (Region 3), Atlanta, GA, USA.

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https://genetics.emory.edu/documents/labs/singh/Bridging%20E
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http://doi.wiley.com/10.1111/j.1365-2753.2011.01807.x
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http://dx.doi.org/10.1111/j.1365-2753.2011.01807.xDOI Listing
August 2013

The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.

Mol Genet Metab 2013 Jul 1;109(3):243-50. Epub 2013 May 1.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.017DOI Listing
July 2013

Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuria.

JIMD Rep 2013 29;10:23-31. Epub 2012 Dec 29.

Graduate Division of Biological and Biomedical Sciences, Nutrition and Health Sciences Program, Emory University School of Arts and Sciences, Decatur, Georgia, USA.

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http://link.springer.com/10.1007/8904_2012_196
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http://dx.doi.org/10.1007/8904_2012_196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755576PMC
May 2013

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Mol Genet Metab 2012 Sep 20;107(1-2):31-6. Epub 2012 Jul 20.

Division of Biological and Biomedical Sciences, Nutrition and Health Sciences, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029439PMC
September 2012

Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.

Mol Genet Metab 2011 Dec 16;104(4):485-91. Epub 2011 Sep 16.

Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029441PMC
December 2011

A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria.

J Inherit Metab Dis 2011 Apr 9;34(2):455-63. Epub 2011 Feb 9.

Nutrition & Health Sciences Program of the Graduate Division of Biological & Biomedical Sciences, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/s10545-011-9277-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227302PMC
April 2011

MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.

Indian J Hum Genet 2011 Jan;17(1):29-32

Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, GA 30033, USA.

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http://dx.doi.org/10.4103/0971-6866.82190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144685PMC
January 2011

BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.

J Inherit Metab Dis 2010 Dec 13;33(6):689-95. Epub 2010 Oct 13.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30030, USA.

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http://link.springer.com/10.1007/s10545-010-9224-1
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http://dx.doi.org/10.1007/s10545-010-9224-1DOI Listing
December 2010

Newborn dried bloodspot screening: long-term follow-up activities and information system requirements.

Genet Med 2010 Dec;12(12 Suppl):S261-6

Department of Genetics, Emory University School of Medicine, Atlanta, GA 30033, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181fe5f6cDOI Listing
December 2010

Medical foods: inborn errors of metabolism and the reimbursement dilemma.

Genet Med 2010 Jun;12(6):364-9

American College of Medical Genetics, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181deb2f0DOI Listing
June 2010

Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria.

J Am Diet Assoc 2010 Jun;110(6):922-5

Graduate Division of Biological and Biomedical Sciences, Nutrition and Health Sciences, Emory University, Decatur, GA 30033, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00028223100023
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http://dx.doi.org/10.1016/j.jada.2010.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885772PMC
June 2010

Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease.

J Inherit Metab Dis 2010 Apr 9;33(2):121-7. Epub 2010 Mar 9.

Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/s10545-010-9066-xDOI Listing
April 2010

Perspectives on dietary adherence among women with inborn errors of metabolism.

J Am Diet Assoc 2010 Feb;110(2):247-52

Program on Pediatric Health Services Research, Department of Pediatrics, Duke University, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.jada.2009.10.030DOI Listing
February 2010

Long-term speech and language developmental issues among children with Duarte galactosemia.

Genet Med 2009 Dec;11(12):874-9

Association for University Centers on Disabilities (AUCD, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181c0c38dDOI Listing
December 2009

Newborn dried bloodspot screening: mapping the clinical and public health components and activities.

Genet Med 2009 Jun;11(6):418-24

Public Health Informatics Institute, Task Force for Child Survival and Development, Decatur, Georgia 30030, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31819f1b33DOI Listing
June 2009

Protein substitute for children and adults with phenylketonuria.

Cochrane Database Syst Rev 2008 Oct 8(4):CD004731. Epub 2008 Oct 8.

Graduate Program in Nutrition & Health Sciences of the Graduate Division of Biological and Biomedical Sciences, Emory University, 2165 North Decatur Road, Decatur, Georgia 30033, USA.

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http://dx.doi.org/10.1002/14651858.CD004731.pub3DOI Listing
October 2008

Standards of professional practice for genetic metabolic dietitians.

Genet Med 2008 Apr;10(4):290-3

Emory Genetics Metabolic Nutrition Program, Emory University, Decatur, Georgia, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31816b443bDOI Listing
April 2008

Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods.

Genet Med 2007 Nov;9(11):761-5

Nutrition and Health Sciences Program, Graduate Division of Biological and Biomedical Sciences, Emory University, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318159a355DOI Listing
November 2007

Unmasked adult-onset urea cycle disorders in the critical care setting.

Crit Care Clin 2005 Oct;21(4 Suppl):S1-8

Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232-0165, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.002DOI Listing
October 2005

Considerations in the difficult-to-manage urea cycle disorder patient.

Crit Care Clin 2005 Oct;21(4 Suppl):S19-25

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.001DOI Listing
October 2005

Nutritional management of urea cycle disorders.

Crit Care Clin 2005 Oct;21(4 Suppl):S27-35

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30032, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.08.003DOI Listing
October 2005

Genetic counseling issues in urea cycle disorders.

Crit Care Clin 2005 Oct;21(4 Suppl):S37-44

Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.08.001DOI Listing
October 2005

Urea cycle disorders: clinical presentation outside the newborn period.

Crit Care Clin 2005 Oct;21(4 Suppl):S9-17

Maine Pediatric Specialty Group, Portland, ME 04102, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.007DOI Listing
October 2005

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.

Genet Med 2004 Mar-Apr;6(2):90-5

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.109701.GIM.0000117334.84388.F4DOI Listing
October 2004

Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors.

Genet Med 2004 Mar-Apr;6(2):96-101

Ross Products Division, Abbott Laboratories, Columbus, Ohio 43215, USA.

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http://dx.doi.org/10.109701.GIM.0000117335.50541.F3DOI Listing
October 2004

Verbal dyspraxia and galactosemia.

Pediatr Res 2003 Mar;53(3):396-402

Emory University Graduate School of Arts and Sciences, Department of Biological and Biomedical Sciences, Division of Nutrition and Health Sciences, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1203/01.PDR.0000049666.19532.1BDOI Listing
March 2003

Management of fatty acid oxidation disorders: a survey of current treatment strategies.

J Am Diet Assoc 2002 Dec;102(12):1800-3

Sarah Lawrence College, Bronxville, NY, USA.

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http://dx.doi.org/10.1016/s0002-8223(02)90386-xDOI Listing
December 2002

Diagnosis and management of defects of mitochondrial beta-oxidation.

Curr Opin Clin Nutr Metab Care 2002 Nov;5(6):601-9

Department of Medical Genetics and Department of Biochemistry and Molecular Biology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/01.mco.0000038807.16540.9bDOI Listing
November 2002