Broad variation in phenotypes for common GAA genotypes in Pompe disease

Patients with the common c.‐32‐13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood. Phenotypic variation for other common GAA genotypes remains largely unexplored. Here, we analyzed variation in age at symptom onset for the most...

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Detalles Bibliográficos
Autores principales: Niño, Monica Y., in't Groen, Stijn L. M., de Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, van den Hout, Hannerieke J. M. P., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292902/
https://www.ncbi.nlm.nih.gov/pubmed/34405923
http://dx.doi.org/10.1002/humu.24272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292902/
https://www.ncbi.nlm.nih.gov/pubmed/34405923
http://dx.doi.org/10.1002/humu.24272

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