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

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

Abstract 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 def...

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Bibliographic Details
Main Authors: José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, Anderson R. B. Paiva, Leandro T. Lucato, Fernando Kok
Format: Article
Language:English
Published: Wiley 2021-11-01
Series:JIMD Reports
Subjects:
adenosine kinase deficiency
adenosine metabolism
methionine metabolism
stroke
Online Access:https://doi.org/10.1002/jmd2.12252

Internet

https://doi.org/10.1002/jmd2.12252

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