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pro vyhledávání: '"Iryna Hregul"'
Autor:
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 272-279 (2024)
Abstract The neuronal ceroid lipofuscinosis type 2 (CLN2) is a heterogeneous group of neurodegenerative lysosomal storage disorders caused by autosomal recessive inheritance of two pathogenic variants in trans in the TPP1 gene. Classical late‐infan
Externí odkaz:
https://doaj.org/article/f61fe51db3314df292863543e663df7c