An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV

Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated pregnancy with polyhydramnios. During her stay in...

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Detalles Bibliográficos
Autores principales: Bezirganoglu, Handan, Adanur Saglam, Kubra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453659/
https://www.ncbi.nlm.nih.gov/pubmed/37628374
http://dx.doi.org/10.3390/children10081375

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453659/
https://www.ncbi.nlm.nih.gov/pubmed/37628374
http://dx.doi.org/10.3390/children10081375

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