One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
2021 · Genetics in Medicine · 84 citations
https://doi.org/10.1038/s41436-021-01156-3
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George A. Díaz
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George A. Díaz is an academic researcher from Tecnológico Nacional de México. The author has contributed to research in topics: Metabolism and Genetic Disorders & Genomics and Rare Diseases & BRCA gene mutations in cancer. The author has an h-index of 44, co-authored 158 publications.
ORCID: 0000-0001-5688-9062Papers by this author
worksPsychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project
2017 · European Journal of Human Genetics · 64 citations
https://doi.org/10.1038/ejhg.2016.178
Glutamine and hyperammonemic crises in patients with urea cycle disorders
2015 · Molecular Genetics and Metabolism · 39 citations
https://doi.org/10.1016/j.ymgme.2015.11.005
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
2021 · Trials · 34 citations
https://doi.org/10.1186/s13063-020-04953-4
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
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
2020 · Molecular Genetics and Metabolism · 15 citations
https://doi.org/10.1016/j.ymgme.2020.12.002
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