A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

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 GSD. The phenotype of GSD IV ranges from neonatal death to mild adult-onset disea...

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Detalles Bibliográficos
Autores principales: Wilke, Matheus Vernet Machado Bressan, de Oliveira, Bibiana Mello, Starosta, Rodrigo Tzovenos, Shinawi, Marwan, Lu, Liang, He, Mai, Ma, Yamin, Stoll, Janis, de Souza, Carolina Fischinger Moura, de Siqueira, Ana Cecilia Menezes, Vieira, Sandra Maria Gonçalves, Cerski, Carlos Thadeu, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953126/
https://www.ncbi.nlm.nih.gov/pubmed/36830903
http://dx.doi.org/10.3390/biomedicines11020363

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953126/
https://www.ncbi.nlm.nih.gov/pubmed/36830903
http://dx.doi.org/10.3390/biomedicines11020363

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