Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anderson R. B. Paiva"'
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:
Pedro Lucas G S B Lima, Paulo R Nobrega, Fernando Freua, Pedro Braga-Neto, Anderson R B Paiva, Thiago Gonçalves Guimarães, Fernando Kok
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-4 (2024)
Abstract Background Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. Case report We report a case of PME type 7 due to a pathogenic variant in
Externí odkaz:
https://doaj.org/article/6c169e2f170342bb84a318229fa91777