Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Sylvia Stockler-IpsirogluNahid YazdanpanahMojgan YazdanpanahMarioara Moisa PopursNataliya YuskivMara Lúcia Schmitz Ferreira SantosChong Ae KimCarolina Fischinger Moura de SouzaCharles Marques LourençoCarlos Eduardo SteinerAndressa FederhenLuciana GiuglianiDébora Maria Bastos PereiraLuz Elena Durán-CarabaliRoberto GiuglianiPublished in: JIMD reports (2021)
Our study extends the phenotypic spectrum of GLB1-related conditions by describing a cohort of patients with MBD and GM1-gangliosidosis (MBD plus). Targeting the progressive nature of the skeletal manifestations in the development of new therapies for GLB1-related conditions is warranted.
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