Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants present...

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Detalles Bibliográficos
Autores principales: Senarathne, Udara Dilrukshi, Jasinge, Eresha, Viknarajah Mohan, Sarojini, Waidyanatha, Samantha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Case Reports: Reminder of important clinical lesson
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915381/
https://www.ncbi.nlm.nih.gov/pubmed/35264382
http://dx.doi.org/10.1136/bcr-2021-247312

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915381/
https://www.ncbi.nlm.nih.gov/pubmed/35264382
http://dx.doi.org/10.1136/bcr-2021-247312

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