Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

Glycogen storage type V (GSD V—McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children affected by the disorder are uncommon (Lucia et al., 2021, Ne...

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Detalles Bibliográficos
Autores principales: Adams, Louisa, Selvanathan, Arthavan, Batten, Kiera J., van Doorn, Nancy, Thompson, Susan, Mitchell, Ashleigh, Sampaio, Hugo, Dalkeith, Troy, Russell, Jacqui, Ellaway, Carolyn J., Farrar, Michelle, Broderick, Carolyn, Bhattacharya, Kaustuv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494502/
https://www.ncbi.nlm.nih.gov/pubmed/37701325
http://dx.doi.org/10.1002/jmd2.12389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494502/
https://www.ncbi.nlm.nih.gov/pubmed/37701325
http://dx.doi.org/10.1002/jmd2.12389

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