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      "text": "1. Huemer M, et al. J Inherit Metab Dis. 2016;39:331–340. 2. Haberle J et al J Inherit Metab Dis. 2019;42:1192-1230. 3. Diez-Fernandez C, et al. Hum Mutat. 2018;39:1029–1050. 4. Schlune A, et al Amino Acids. 2015;47:1751–1762.",
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