Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis, recurrent hypoglycemia, and cardiac defects. Onl...

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Detalles Bibliográficos
Autores principales: Paz, José A., Embiruçu, Emilia K., Bueno, Clarissa, Ferreira, Rafaela C. C. L., Oliveira, Fernanda S., Pereira, Ane S. S., Schwartz, Ida V. D., Paiva, Anderson R. B., Lucato, Leandro T., Kok, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574177/
https://www.ncbi.nlm.nih.gov/pubmed/34765398
http://dx.doi.org/10.1002/jmd2.12252

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