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Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay
Balfoort, B. M., Pampalone, G., Ruiter, J. P. N., Denis, S. W., Brands, M. M., Timmer, C. & GACR Bird's Eye View Consortium, 1 Sept 2024, In: Molecular genetics and metabolism. 143, 1-2, 108542.Research output: Contribution to journal › Article* › Academic › peer-review
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Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
Al-Amrani, F., Ruiter, J. P. N., Doolaard, M., Kumar, A., Ferdinandusse, S. & Al-Thihli, K., 2024, (E-pub ahead of print) In: American journal of medical genetics. Part A.Research output: Contribution to journal › Article* › Academic › peer-review
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