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Cross-sectional Observations on the Natural History of Mucolipidosis Type IV

BACKGROUND AND OBJECTIVES: Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal disorder initially described as a static neurodevelopmental condition. However, patient caregivers frequently report progressive muscular hypertonicity and functional decline. We evaluated a cohort of patients with ML...

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Detalles Bibliográficos
Autores principales:	Misko, Albert L., Wood, Levi B., DeBono, Madeline, Oberman, Rebecca, Raas-Rothschild, Annick, Grishchuk, Yulia, Eichler, Florian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005048/ https://www.ncbi.nlm.nih.gov/pubmed/35425852 http://dx.doi.org/10.1212/NXG.0000000000000662

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