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2023 | 1 |
2024 | 1 |
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Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.
J Inherit Metab Dis. 2024 Mar 19. doi: 10.1002/jimd.12722. Online ahead of print.
J Inherit Metab Dis. 2024.
PMID: 38503330
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Kido J, Häberle J, Tanaka T, Nagao M, Wada Y, Numakura C, Bo R, Nyuzuki H, Dateki S, Maruyama S, Murayama K, Yoshida S, Nakamura K.
Kido J, et al.
J Inherit Metab Dis. 2023 Sep 8. doi: 10.1002/jimd.12673. Online ahead of print.
J Inherit Metab Dis. 2023.
PMID: 37681292
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