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Clinical features and neurologic progression of hyperargininemia.
Carvalho DR, Brum JM, Speck-Martins CE, Ventura FD, Navarro MM, Coelho KE, Portugal D, Pratesi R. Carvalho DR, et al. Among authors: brum jm. Pediatr Neurol. 2012 Jun;46(6):369-74. doi: 10.1016/j.pediatrneurol.2012.03.016. Pediatr Neurol. 2012. PMID: 22633632
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Huemer M, Carvalho DR, Brum JM, Ünal Ö, Coskun T, Weisfeld-Adams JD, Schrager NL, Scholl-Bürgi S, Schlune A, Donner MG, Hersberger M, Gemperle C, Riesner B, Ulmer H, Häberle J, Karall D. Huemer M, et al. Among authors: brum jm. J Inherit Metab Dis. 2016 May;39(3):331-340. doi: 10.1007/s10545-016-9928-y. Epub 2016 Apr 1. J Inherit Metab Dis. 2016. PMID: 27038030
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. Among authors: brum jm. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.
59 results