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pro vyhledávání: '"Piotr Chuchra"'
Autor:
Piotr Chuchra, Magdalena Nowak, Agnieszka Roj, Agnieszka Skoczyńska, Wojciech Wojakowski, Paweł Gąsior
Publikováno v:
Advances in Interventional Cardiology, Vol 18, Iss 3, Pp 309-310 (2022)
Externí odkaz:
https://doaj.org/article/dbb05b86dae145a9a0943ceb3fb2a47d
Publikováno v:
Metabolites, Vol 12, Iss 10, p 955 (2022)
COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrop
Externí odkaz:
https://doaj.org/article/fea0b83b06ee4b00b343b759d052196f
Publikováno v:
Journal of clinical medicine. 11(11)
Nonketotic hyperglycinemia (NKH) is a rare inborn error of glycine metabolism that is characterized by the accumulation of glycine in all tissues, especially in the central nervous system (CNS). Based on clinical outcomes, NKH can be divided into two