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pro vyhledávání: '"Ane S S Pereira"'
Autor:
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
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 49-55 (2021)
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 ch
Externí odkaz:
https://doaj.org/article/a2caa55d6d714e1c919822fa5a5b3b22
Autor:
Ida Vanessa Doederlein Schwartz, Ane S S Pereira, Clarissa Bueno, José Albino da Paz, Rafaela C C L Ferreira, Leandro Tavares Lucato, Fernanda S Oliveira, Emília Katiane Embiruçu, Anderson Rodrigues Brandão de Paiva, Fernando Kok
Publikováno v:
JIMD Reports
JIMD Reports, Vol 62, Iss 1, Pp 49-55 (2021)
JIMD Reports, Vol 62, Iss 1, Pp 49-55 (2021)
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d447988e553ce2441b71c5204bd2ebb
http://europepmc.org/articles/PMC8574177
http://europepmc.org/articles/PMC8574177