Navegação Ciências da Saúde por Assunto "Inborn Error of Metabolism"

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    • Humoral immune response in adult Brazilian patients with mucolipidosis III gamma 

      Sperb, Fernanda; Siebert, Marina; Alegra, Taciane; Velho, Renata Voltolini; Ludwig, Nataniel Floriano; Siebert, Marina; Wilson, Mariana de Sampaio Leite Jobim; Vairo, Filippo Pinto e; Schwartz, Ida Vanessa Doederlein (2019) [Artigo de periódico]
      Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune ...