Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
2017 · Genetics in Medicine · 237 citations
https://doi.org/10.1038/gim.2017.101
R
Rani H. Singh
Emory University(US)
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Rani H. Singh is an academic researcher from Emory University. The author has contributed to research in topics: Metabolism and Genetic Disorders & Diet and metabolism studies & Folate and B Vitamins Research. The author has an h-index of 37, co-authored 118 publications.
ORCID: 0000-0003-2096-2592Papers by this author
worksBone health in phenylketonuria: a systematic review and meta-analysis
2015 · Orphanet Journal of Rare Diseases · 105 citations
https://doi.org/10.1186/s13023-015-0232-y
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride
2013 · Health and Quality of Life Outcomes · 42 citations
https://doi.org/10.1186/1477-7525-11-218
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine
2018 · Molecular Genetics and Metabolism Reports · 27 citations
https://doi.org/10.1016/j.ymgmr.2018.09.006
Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations
2023 · Orphanet Journal of Rare Diseases · 24 citations
https://doi.org/10.1186/s13023-023-02751-0
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
2024 · Molecular Genetics and Metabolism Reports · 14 citations
https://doi.org/10.1016/j.ymgmr.2024.101084
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