Navegação por Assunto "Dietary treatment"

Resultados 1-1 de 1

    • A broad characterization of glycogen storage disease iv patients : a clinical, genetic, and histopathological study 

      Wilke, Matheus Vernet Machado Bressan; Oliveira, Bibiana Mello de; Starosta, Rodrigo Tzovenos; Shinawi, Marwan; Lu, Liang; He, Mai; Ma, Yamin; Stoll, Janis; Souza, Carolina Fischinger Moura de; Siqueira, Ana Cecilia Menezes de; Vieira, Sandra Maria Gonçalves; Cerski, Carlos Thadeu Schmidt; Refosco, Lilia Farret; Schwartz, Ida Vanessa Doederlein (2023) [Artigo de periódico]
      Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all ...