Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency
Article in Journal of Inherited Metabolic Disease (May 2024)
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Article in Journal of Inherited Metabolic Disease (May 2024)
Article in Journal of Inherited Metabolic Disease (January 2024)
Article in Journal of Inherited Metabolic Disease (September 2023)