A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC–MS for clinical urine organic acids analysis
Clinical Biochemistry
Dubland, J.A. and Sinclair, G. and Vallance, H. and Raki?, B.
DOI: 10.1016/j.clinbiochem.2022.04.016
2022

Molecular diagnosis of pompe disease in the genomic era: Correlation with acid alpha-glucosidase activity in dried blood spots
Journal of Clinical Medicine
Thuriot, F. and Gravel, E. and Hodson, K. and Ganopolsky, J. and Rakic, B. and Waters, P.J. and Gravel, S. and Lévesque, S.
DOI: 10.3390/jcm10173868
2021

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 derivatization approach
Journal of Mass Spectrometry and Advances in the Clinical Lab
Dubland, J.A. and Raki?, B. and Vallance, H. and Sinclair, G.
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2021

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
Molecular genetics and metabolism reports
Apatean D and Rakic B and Brunel-Guitton C and Hendson G and Bai R and Sargent MA and Lavoie PM and Patel M and Stockler-Ipsiroglu S
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PubMed: 31065540
04/2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
Molecular genetics and metabolism reports
Apatean D and Rakic B and Brunel-Guitton C and Hendson G and Bai R and Sargent MA and Lavoie PM and Patel M and Stockler-Ipsiroglu S
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01/2019

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
JCI insight
Wen XY and Tarailo-Graovac M and Brand-Arzamendi K and Willems A and Rakic B and Huijben K and Da Silva A and Pan X and El-Rass S and Ng R and Selby K and Philip AM and Yun J and Ye XC and Lefeber DJ
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PubMed: 30568043
12/2018

Gene Expression Profiling of Endoplasmic Reticulum Stress in Hepatitis C Virus-Containing Cells Treated with an Inhibitor of Protein Disulfide Isomerases.
ACS omega
Özcelik D and Seto A and Rakic B and Farzam A and Supek F and Pezacki JP
DOI: 10.1021/acsomega.8b02676
PubMed: 30775641
12/2018

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Journal of inherited metabolic disease
DOI: 10.1007/s10545-016-9972-7
PubMed: 27671891
01/2017

Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
06/2016

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drögemöller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
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2016