R
Rani H. Singh
Researcher at Emory University
Publications - 105
Citations - 3109
Rani H. Singh is an academic researcher from Emory University. The author has contributed to research in topics: Population & Phenylketonurias. The author has an hindex of 31, co-authored 99 publications receiving 2659 citations. Previous affiliations of Rani H. Singh include University of Georgia & University of Pittsburgh.
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Journal ArticleDOI
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M. Camp,Melissa A. Parisi,Phyllis B. Acosta,Gerard T. Berry,Deborah A. Bilder,Nenad Blau,Nenad Blau,Olaf Bodamer,Jeffrey P. Brosco,Christine Brown,Alberto Burlina,Barbara K. Burton,Christine Chang,Paul M. Coates,Amy Cunningham,Steven F. Dobrowolski,John H. Ferguson,Thomas D. Franklin,Dianne M. Frazier,Dorothy K. Grange,Carol L. Greene,Stephen C. Groft,Cary O. Harding,R. Rodney Howell,Kathleen Huntington,Henrietta D. Hyatt-Knorr,Indira Jevaji,Harvey L. Levy,Uta Lichter-Konecki,Mary Lou Lindegren,Michele A. Lloyd-Puryear,Kimberlee Michals Matalon,Anita MacDonald,Melissa L McPheeters,John J. Mitchell,Shideh Mofidi,Kathryn D. Moseley,Christine M. Mueller,Andrew E. Mulberg,Lata S. Nerurkar,Beth N. Ogata,Anne R. Pariser,Suyash Prasad,Gabriella Pridjian,Sonja A. Rasmussen,Uma M. Reddy,Frances Rohr,Rani H. Singh,Sandra Sirrs,Stephanie E. Stremer,Danilo A. Tagle,Susan Thompson,Tiina K. Urv,Jeanine Utz,Francjan J. van Spronsen,Jerry Vockley,Susan E. Waisbren,Linda S. Weglicki,Desirée A. White,Chester B. Whitley,Benjamin S. Wilfond,Steven Yannicelli,Justin M. Young +62 more
TL;DR: A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment, and there are significant gaps in predicting response to treatment.
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Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
Rani H. Singh,Fran Rohr,Dianne M. Frazier,Amy Cunningham,Shideh Mofidi,Beth N. Ogata,Patricia L. Splett,Kathryn Moseley,Kathleen Huntington,Phyllis B. Acosta,Jerry Vockley,Sandra C. Van Calcar +11 more
TL;DR: Evidence-based guidelines for managing phenylalanine hydroxylase deficiency, optimizing outcomes, and addressing all available therapies are lacking and recommendations for nutrition management were developed using evidence from peer-reviewed publications, gray literature, and consensus surveys.
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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
Jeffrey M. Chinsky,Rani H. Singh,Can Ficicioglu,Clara D.M. van Karnebeek,Markus Grompe,Grant A. Mitchell,Susan E. Waisbren,Muge Gucsavas-Calikoglu,Melissa P. Wasserstein,Katie Coakley,C. Ronald Scott +10 more
TL;DR: There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet.
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Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Dianne M. Frazier,Courtney Allgeier,Caroline S.E. Homer,Barbara J. Marriage,Beth N. Ogata,Frances Rohr,Patricia L. Splett,Adrya Stembridge,Rani H. Singh +8 more
TL;DR: This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process.
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Unmasked Adult-Onset Urea Cycle Disorders in the Critical Care Setting
Marshall L. Summar,Frederick E. Barr,Frederick E. Barr,Sheila Dawling,Wendy E. Smith,Brendan Lee,Rani H. Singh,William J. Rhead,Lisa Sniderman King,Brian W. Christman,Brian W. Christman +10 more
TL;DR: Three cases of adult-onset hyperammonemia caused by inherited defects in nitrogen processing in the urea cycle are presented, and the diagnosis, management, and pathophysiology of adult -onset Urea cycle disorders are reviewed.