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Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Tarailo-Graovac M, et al. Among authors: rakic b. N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25. N Engl J Med. 2016. PMID: 27276562 Free PMC article.
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.
Dubland JA, Rakić B, Vallance H, Sinclair G. Dubland JA, et al. Among authors: rakic b. J Mass Spectrom Adv Clin Lab. 2021 Mar 17;20:1-10. doi: 10.1016/j.jmsacl.2021.03.001. eCollection 2021 Apr. J Mass Spectrom Adv Clin Lab. 2021. PMID: 34820666 Free PMC article.
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
Wen XY, Tarailo-Graovac M, Brand-Arzamendi K, Willems A, Rakic B, Huijben K, Da Silva A, Pan X, El-Rass S, Ng R, Selby K, Philip AM, Yun J, Ye XC, Ross CJ, Lehman AM, Zijlstra F, Abu Bakar N, Drögemöller B, Moreland J, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi F, Hoskings M, Engelke U, de Brouwer A, Wevers RA, Pshezhetsky AV, van Karnebeek CD, Lefeber DJ. Wen XY, et al. Among authors: rakic b. JCI Insight. 2018 Dec 20;3(24):e122373. doi: 10.1172/jci.insight.122373. JCI Insight. 2018. PMID: 30568043 Free PMC article.
Structural insight into mammalian sialyltransferases.
Rao FV, Rich JR, Rakić B, Buddai S, Schwartz MF, Johnson K, Bowe C, Wakarchuk WW, Defrees S, Withers SG, Strynadka NC. Rao FV, et al. Among authors: rakic b. Nat Struct Mol Biol. 2009 Nov;16(11):1186-8. doi: 10.1038/nsmb.1685. Epub 2009 Oct 11. Nat Struct Mol Biol. 2009. PMID: 19820709
37 results