Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may ev...

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Detalles Bibliográficos
Autores principales: Mills, Shelby L., Roberts, Paige, Ashfaq, Myla, Leal, Kathryn, Northrup, Hope, Brown, Deborah L., Rodriguez‐Buritica, David, Farach, Laura S.
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/PMC10623097/
https://www.ncbi.nlm.nih.gov/pubmed/37927486
http://dx.doi.org/10.1002/jmd2.12397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623097/
https://www.ncbi.nlm.nih.gov/pubmed/37927486
http://dx.doi.org/10.1002/jmd2.12397

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