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Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.
Phillips D, Hennermann JB, Tylki-Szymanska A, Borgwardt L, Gil-Campos M, Guffon N, Amraoui Y, Geraci S, Ardigò D, Cattaneo F, Lund AM. Phillips D, et al. Mol Genet Metab Rep. 2020 Apr 8;23:100586. doi: 10.1016/j.ymgmr.2020.100586. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32292699 Free PMC article.
[A new mutation in the GLDC gene in non-ketotic hyperglycinaemia].
Rodríguez-Benítez V, Arranz JA, Mata C, Pérez-Navero JL, Gil-Campos M. Rodríguez-Benítez V, et al. An Pediatr (Barc). 2014 Jan;80(1):e7-8. doi: 10.1016/j.anpedi.2011.11.002. Epub 2011 Dec 27. An Pediatr (Barc). 2014. PMID: 22206881 Free article. Spanish. No abstract available.
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N. Lund AM, et al. J Inherit Metab Dis. 2018 Nov;41(6):1225-1233. doi: 10.1007/s10545-018-0175-2. Epub 2018 May 3. J Inherit Metab Dis. 2018. PMID: 29725868 Free PMC article. Clinical Trial.
137 results