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Autor:
Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche, Emmanuel Richard, Isabelle Redonnet-Vernhet, Samir Mesli, Louis Lebreton
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Holocarboxylase synthase (HCS) deficiency is an extremely rare metabolic disorder typically presenting as severe neonatal metabolic acidosis, lethargy, hypotonia, vomiting, and seizures. This report describes two siblings in a family with late-onset
Externí odkaz:
https://doaj.org/article/b37e84d2e6534cbfb3a10dfc51bd72a2
