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Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
OBJECTIVE: This study aimed to improve the cognition of mucolipidosis (ML) II and III alpha/beta by analyzing the clinical manifestations of two patients. METHODS: The clinical, biochemical, and molecular data of two clinical cases associated with ML II and III alpha/beta were analyzed and compared...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9033252/ https://www.ncbi.nlm.nih.gov/pubmed/35463894 http://dx.doi.org/10.3389/fped.2022.852701 |