Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
2020 · Journal of Inherited Metabolic Disease · 58 citations
https://doi.org/10.1002/jimd.12241
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Joana Correia
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Joana Correia is an academic researcher. The author has contributed to research in topics: Cardiac pacing and defibrillation studies & Cardiovascular Function and Risk Factors & Heart Failure Treatment and Management. The author has an h-index of 9, co-authored 51 publications.
ORCID: 0000-0002-0245-6840Papers by this author
worksShould patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
2021 · Molecular Genetics and Metabolism · 13 citations
https://doi.org/10.1016/j.ymgme.2021.06.003
The SHIFT model combines clinical, electrocardiographic and echocardiographic parameters to predict sudden cardiac death in hypertrophic cardiomyopathy
2019 · Revista Portuguesa de Cardiologia (English Edition) · 1 citations
https://doi.org/10.1016/j.repce.2019.05.025
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review
2024 · Neurobiology of Disease · 1 citations
https://doi.org/10.1016/j.nbd.2024.106644
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW
2021 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.14282521
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