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Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L, Bastos Pereira DM, Durán-Carabali LE, Giugliani R. Stockler-Ipsiroglu S, et al. Among authors: duran carabali le. JIMD Rep. 2021 Mar 8;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258138 Free PMC article.
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