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JCO Precision Oncology|May 6, 2024
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD VariantsAndré B P van Kuilenburg, Marjolein C H Pleunis-van Empel, Rick B Brouwer, et al.Molecular Genetics and Metabolism|March 22, 2026
Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicityAndré B P van Kuilenburg, Hanna Mandel, Tameemi Abdalla Moady, et al.The New England Journal of Medicine|April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSAndré B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disordersClara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.Pageof 7