Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis. [PDF]
Wasim M, Khan HN, Wang Y, Ma G.
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CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I. [PDF]
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A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay [PDF]
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Syndrome of hereditary tyrosinemia in mink
Sørensen H, Venge O, Christensen K
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Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]
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Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. [PDF]
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Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66". [PDF]
Dijkstra AM +9 more
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