Joana Correia

SLC35A2-CDG: Novel variant and review

Dulce Quelhas, Joana Correia, Jaak Jaeken et al. · Molecular Genetics and Metabolism Reports · 2021 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Challenging the status quo: A comparison of ion exchange chromatography with liquid chromatography–mass spectrometry and liquid chromatography–tandem mass spectrometry methods for the measurement of amino acids in human plasma

Rachel S. Carling, Benjamin AC McDonald, Donna Austin et al. · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · 2020 · 13 citations

Pharmacy, Biochemistry, Analytical Chemistry +16

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Anna Čechová, Tomáš Honzík, Andrew C. Edmondson et al. · Molecular Genetics and Metabolism · 2021 · 13 citations · Full text

Medicine, Endocrinology, Endocrine Genetics +16

Iron‐sulfur cluster ISD11 deficiency (<i>LYRM4</i> gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria

Margarida Paiva Coelho, Joana Correia, Aureliano Dias et al. · JIMD Reports · 2019 · 11 citations · Full text

Life Sciences, Biochemistry, Genetics +17

The SHIFT model combines clinical, electrocardiographic and echocardiographic parameters to predict sudden cardiac death in hypertrophic cardiomyopathy

Catarina Ruivo, Fernando Montenegro Sá, Joana Correia et al. · Revista Portuguesa de Cardiologia · 2019 · 10 citations · Full text

Medicine, Cardiology, Internal Medicine +17