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Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report

Arginase deficiency is a progressive neurological disorder characterized by episodic hyperammonemia crises. Our patient had been diagnosed with cerebral palsy (spastic paraplegia) in childhood and received rehabilitation. She had suffered parotid swelling since the age of 5 years, prior to liver dys...

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Detalles Bibliográficos
Autores principales: Kuyama, Noboru, Nagaki, Shigeru, Miyamoto, Akie, Etou, Kaoru, Maruyama, Hiroshi, Osawa, Makiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291395/
https://www.ncbi.nlm.nih.gov/pubmed/37377459
http://dx.doi.org/10.1177/2050313X231181836