Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis
| Autor: | Štufková, Hana, Majer, Filip, Hanák, Petr, Nosková, Lenka, Stránecký, Viktor, Rychtárová, Lucie, Ferdinandusse, Sacha, Křížová, Jana, Hansíková, Hana, Tesařová, Markéta, Kmoch, Stanislav, Kolářová, Hana, Honzík, Tomáš, Sikora, Jakub |
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| Zdroj: | In BBA - Bioenergetics 1 September 2024 1865 Supplement |
| Databáze: | ScienceDirect |
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