Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatizat...

por Dubland, Joshua A., Rakić, Bojana, Vallance, Hilary, Sinclair, Graham
Publicado 2021

Gene Expression Profiling of Endoplasmic Reticulum Stress in Hepatitis C Virus-Containing Cells Treated with an Inhibitor of Protein Disulfide Isomerases

por Özcelik, Dennis, Seto, Andrew, Rakic, Bojana, Farzam, Ali, Supek, Frantisek, Pezacki, John Paul
Publicado 2018

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

por Thuriot, Fanny, Gravel, Elaine, Hodson, Katherine, Ganopolsky, Jorge, Rakic, Bojana, Waters, Paula J., Gravel, Serge, Lévesque, Sébastien
Publicado 2021

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

por Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia
Publicado 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

por Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia
Publicado 2019

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

por Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, Blom, Henk J.
Publicado 2016