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pro vyhledávání: '"Walinka vanTol"'
Autor:
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 31-39 (2019)
Abstract Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurologic
Externí odkaz:
https://doaj.org/article/15fb8b1950804d25a28949915fc0f2f3
