Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
ObjectiveThis study aimed to improve the cognition of mucolipidosis (ML) II and III alpha/beta by analyzing the clinical manifestations of two patients.MethodsThe clinical, biochemical, and molecular data of two clinical cases associated with ML II and III alpha/beta were analyzed and compared with...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2022-04-01
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| coleção: | Frontiers in Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fped.2022.852701/full |
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