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Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
J Inherit Metab Dis. 2023 Sep 8. doi: 10.1002/jimd.12673. Online ahead of print.
J Inherit Metab Dis. 2023.
PMID: 37681292
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.
Kido J, Makris G, Santra S, Häberle J.
Kido J, et al.
J Inherit Metab Dis. 2024 Mar 19. doi: 10.1002/jimd.12722. Online ahead of print.
J Inherit Metab Dis. 2024.
PMID: 38503330
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