FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Rani Singh

Research Profile

Disorders

Chemicals & Drugs

Living Beings

Physiology

Objects

Formulated Food

Procedures

Activities & Behaviors

Patient Compliance

Anatomy

Erythrocytes

Co-author Network

Publications

TOP 3
Teresa D Douglas; Mary J Kennedy; Meghan E Quirk; Sarah H Yi; Rani H Singh
Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuria.
Meghan E Quirk; Bradford Coffee; Steven F Dobrowolski; Benjamin E Nelson; Rani H Singh
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
S H L Yi; Marian L Evatt; Julie A Kable; Rani H Singh
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.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Rani Singh (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Teresa D Douglas; Mary J Kennedy; Meghan E Quirk; Sarah H Yi; Rani H Singh
Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuria.
JIMD reports 2013;10():23-31.
2012: Meghan E Quirk; Bradford Coffee; Steven F Dobrowolski; Benjamin E Nelson; Rani H Singh
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Molecular genetics and metabolism 2012;107(1-2):31-6.
2011: S H L Yi; Marian L Evatt; Julie A Kable; Rani H Singh
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 2011;85(6):317-27.
2011: Rani H Singh; Meghan E Quirk
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;104(4):485-91.
2011: Sarah H L Yi; Julie A Kable; Marian L Evatt; Rani H Singh
A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria.
Journal of inherited metabolic disease 2011;34(2):455-63.
2011: Muhammad Ali Pervaiz; Madhuri Hegde; Fran Kendall; Rani H Singh
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Indian journal of human genetics 2011;17(1):29-32.
2010: Rani H Singh; Alan R Hinman
Newborn dried bloodspot screening: long-term follow-up activities and information system requirements.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(12 Suppl):S261-6.
2010: Rani H Singh; Meghan E Quirk; Teresa D Douglas; Mary C Brauchla
BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
Journal of inherited metabolic disease 2010;33(6):689-95.
2010: Meghan E Quirk; Brian J Schmotzer; Rani H Singh
Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria.
Journal of the American Dietetic Association 2010;110(6):922-5.
2010: Meredith A Weaver; Alissa Johnson; Rani H Singh; William R Wilcox; Puryear Michele; Michael S Watson
Medical foods: inborn errors of metabolism and the reimbursement dilemma.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(6):364-9.
2010: Laura M Mazer; Sarah H L Yi; Rani H Singh
Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease.
Journal of inherited metabolic disease 2010;33(2):121-7.
2010: Kimberly Powell; Kim Van Naarden Braun; Rani H Singh; Stuart K Shapira; Richard S Olney; Marshalyn Yeargin-Allsopp
Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.
The Journal of pediatrics 2010;156(3):420-6.
2010: Alex R Kemper; Cheryl A Brewer; Rani H Singh
Perspectives on dietary adherence among women with inborn errors of metabolism.
Journal of the American Dietetic Association 2010;110(2):247-52.
2009: Kimberly K Powell; Kim Van Naarden Braun; Rani H Singh; Stuart K Shapira; Richard S Olney; Marshalyn Yeargin-Allsopp
Long-term speech and language developmental issues among children with Duarte galactosemia.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(12):874-9.
2009: Alan R Hinman; Marie Y Mann; Rani H Singh
Newborn dried bloodspot screening: mapping the clinical and public health components and activities.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(6):418-24.
2008: Rani H Singh; Melissa M Kaczmarczyk
Standards of professional practice for genetic metabolic dietitians.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(4):290-3.
2008: Sarah H L Yi; Rani H Singh
Protein substitute for children and adults with phenylketonuria.
Cochrane database of systematic reviews (Online) 2008;(4):CD004731.
2007: Rani H Singh
Nutritional management of patients with urea cycle disorders.
Journal of inherited metabolic disease 2007;30(6):880-7.
2007: Cria O Gregory; Chunli Yu; Rani H Singh
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 2007;9(11):761-5.
2005: Wendy Smith; Priya S Kishnani; Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Michael Smith; Marshall Summar
Urea cycle disorders: clinical presentation outside the newborn period.
Critical care clinics 2005;21(4 Suppl):S9-17.
2005: Lisa Sniderman King; Rani H Singh; William J Rhead; Wendy Smith; Brendan Lee; Marshall Summar
Genetic counseling issues in urea cycle disorders.
Critical care clinics 2005;21(4 Suppl):S37-44.
2005: Rani H Singh; William J Rhead; Wendy Smith; Brendan Lee; Lisa Sniderman King; Marshall Summar
Nutritional management of urea cycle disorders.
Critical care clinics 2005;21(4 Suppl):S27-35.
2005: Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Wendy Smith; Marshall Summar
Considerations in the difficult-to-manage urea cycle disorder patient.
Critical care clinics 2005;21(4 Suppl):S19-25.
2005: Marshall Summar; Frederick Barr; Sheila Dawling; Wendy Smith; Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Brian W Christman
Unmasked adult-onset urea cycle disorders in the critical care setting.
Critical care clinics 2005;21(4 Suppl):S1-8.
2004: Vito Iacobazzi; Marzia Pasquali; Rani H Singh; Dietrich Matern; Piero Rinaldo; Cristina Amat di San Filippo; Ferdinando Palmieri; Nicola Longo
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
American journal of medical genetics. Part A 2004;126A(2):150-5.
2004: Phyllis B Acosta; Steven Yannicelli; Rani H Singh; Louis J Elsas; Shideh Mofidi; Robert D Steiner
Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(2):96-101.
2004: Rani H Singh; warren kruger; Liqun Wang; Marzia Pasquali; Louis J Elsas
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 2004;6(2):90-5.
2004: Nicola Longo; T Fukao; Rani H Singh; Marzia Pasquali; R G Barrios; N Kondo; K M Gibson
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.
Journal of inherited metabolic disease 2004;27(5):691-2.
2004: Fran Rohr; A Munier; D Sullivan; I Bailey; M Gennaccaro; Hara Levy; H Brereton; S Gleason; B Goss; E Lesperance; K Moseley; Rani H Singh; L Tonyes; H Vespa; Susan E Waisbren
The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings.
Journal of inherited metabolic disease 2004;27(2):145-55.
2003: warren kruger; Liqun Wang; Kwang-Hwan Jhee; Rani H Singh; Louis J Elsas
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Human mutation 2003;22(6):434-41.
2003: Phyllis B Acosta; Steven Yannicelli; Rani H Singh; Shideh Mofidi; Robert D Steiner; Ellen DeVincentis; Elaina Jurecki; Laurie Bernstein; Sally Gleason; Malini Chetty; Bobbye Rouse
Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy.
Journal of the American Dietetic Association 2003;103(9):1167-73.
2003: Amy Webb Girard; Rani H Singh; Mary Jane Kennedy; Louis J Elsas
Verbal dyspraxia and galactosemia.
Pediatric research 2003;53(3):396-402.
2002: Java O Solis; Rani H Singh
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Journal of the American Dietetic Association 2002;102(12):1800-3.
2002: Jerry Vockley; Rani H Singh; David A H Whiteman
Diagnosis and management of defects of mitochondrial beta-oxidation.
Current opinion in clinical nutrition and metabolic care 2002;5(6):601-9.
2002: Amanda Savage Brown; Paul M FERNHOFF; Susan E Waisbren; Dianne M Frazier; Rani H Singh; Fran Rohr; Jill M Morris; Aileen Kenneson; Pia D M MacDonald; Marta Gwinn; Margaret Honein; Sonja A Rasmussen
Barriers to successful dietary control among pregnant women with phenylketonuria.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(2):84-9.
2001: Nicola Longo; Rani H Singh; Louis J Elsas
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome.
Journal of inherited metabolic disease 2001;24(5):546-50.
2001: Phyllis B Acosta; Steven Yannicelli; Rani H Singh; L J Eisas; M J Kennedy; Laurie Bernstein; F Rohr; C Trahms; Richard Koch; J Breck
Intake and blood levels of fatty acids in treated patients with phenylketonuria.
Journal of pediatric gastroenterology and nutrition 2001;33(3):253-9.
2000: NV Guerrero; Rani H Singh; Amita K Manatunga; Gerard T Berry; Robert D Steiner; Louis J Elsas
Risk factors for premature ovarian failure in females with galactosemia.
The Journal of pediatrics 2000;137(6):833-41.
2000: Gerard T Berry; Rani H Singh; Alice T Mazur; NV Guerrero; M J Kennedy; Jie Chen; Robert Reynolds; Michael J Palmieri; P D Klein; Stanton Segal; Louis J Elsas
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Pediatric research 2000;48(3):323-8.
2000: Rani H Singh; Julie A Kable; NV Guerrero; K M Sullivan; Louis J Elsas
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 2000;100(7):797-803.
2000: A Robertson; Rani H Singh; NV Guerrero; M Hundley; Louis J Elsas
Outcomes analysis of verbal dyspraxia in classic galactosemia.
Genetics in medicine : official journal of the American College of Medical Genetics 2000;2(2):142-8.
1999: Michael Palmieri; A Mazur; Gerard T Berry; Cong Ning; Suzanne Wehrli; Claire Yager; Robert Reynolds; Rani H Singh; K Muralidharan; S Langley; Louis J Elsas; Stanton Segal
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
Metabolism: clinical and experimental 1999;48(10):1294-302.
1998: Fernando Scaglia; Yuhuan Wang; Rani H Singh; PP Dembure; Marzia Pasquali; Paul M FERNHOFF; Nicola Longo
Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics 1998;1(1):34-9.
1997: Gerard T Berry; I Nissim; J B Gibson; Alice T Mazur; Z Lin; Louis J Elsas; Rani H Singh; P D Klein; Stanton Segal
Quantitative assessment of whole body galactose metabolism in galactosemic patients.
European journal of pediatrics 1997;156 Suppl 1():S43-9.
1996: Randy C Eisensmith; D R Martinez; Alexei I Kuzmin; A A Goltsov; A Brown; Rani H Singh; I I Elsas LJ; SL Woo
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Pediatrics 1996;97(4):512-6.
1996: Kent Lai; Sharon D Langley; Rani H Singh; PP Dembure; L N Hjelm; Louis J Elsas
A prevalent mutation for galactosemia among black Americans.
The Journal of pediatrics 1996;128(1):89-95.
1995: Gerard T Berry; I Nissim; A T Mazur; Louis J Elsas; Rani H Singh; P D Klein; J B Gibson; Z Lin; Stanton Segal
In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.
Biochemical and molecular medicine 1995;56(2):158-65.
1995: Louis J Elsas; Sharon D Langley; E Steele; J Evinger; Judith L Fridovich-Keil; A Brown; Rani H Singh; Paul M FERNHOFF; L N Hjelm; PP Dembure
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
American journal of human genetics 1995;56(3):630-9.
1994: Nicola Longo; Rani H Singh; L D Griffin; Sharon D Langley; John Parks; Louis J Elsas
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I.
The Journal of clinical endocrinology and metabolism 1994;79(3):799-805.
1991: Herbert L Bonkovsky; Rani H Singh; I H Jafri; D A Fiellin; G S Smith; D Simon; George Cotsonis; D P Slaker
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.
The American journal of gastroenterology 1991;86(9):1209-18.