Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial
2024 · EClinicalMedicine · 21 citations
https://doi.org/10.1016/j.eclinm.2023.102405
R
Rossana Sanchez Russo
Emory University(US)
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Rossana Sanchez Russo is an academic researcher from Emory University. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Congenital heart defects research & Lysosomal Storage Disorders Research. The author has an h-index of 11, co-authored 42 publications.
ORCID: 0000-0003-0423-2557Papers by this author
worksComprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report
2020 · BMC Psychiatry · 16 citations
https://doi.org/10.1186/s12888-020-02598-w
Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome
2021 · Translational Psychiatry · 16 citations
https://doi.org/10.1038/s41398-021-01435-2
De novo variants in DENND5B cause a neurodevelopmental disorder
2024 · The American Journal of Human Genetics · 8 citations
https://doi.org/10.1016/j.ajhg.2024.02.001
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
2016 · American Journal of Ophthalmology Case Reports · 5 citations
https://doi.org/10.1016/j.ajoc.2016.07.005
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