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Enzymatic Evolution and Longitudinal Recovery in Biotinidase Deficiency: Genotypic and Clinical Insights from the Follow-Up of a Newborn-Screened Cohort in Emilia-Romagna, Italy 酶促进化与纵向恢复在生物素酶缺乏症中的研究：来自意大利艾米利亚-罗马涅地区新生儿筛查队列随访的基因型和临床见解

Metabolites 2025, Vol. 15, Page 605

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2025-09-10

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Rita Ortolano; Soara Menabò; Egidio Candela; Giacomo Biasucci; Elisa Bortolamedi; Giulia Montanari; Alessandro Zuccotti; Umberto Cattini; Marcello Lanari; Federico Baronio