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Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency by Ling Zhou, Jie Deng, Sarah L. Stenton, Sarah L. Stenton, Ji Zhou, Hua Li, Chunhong Chen, Holger Prokisch, Holger Prokisch, Holger Prokisch, Fang Fang
Published 2020Connect to this object online.
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New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center by Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann
Published 2024Connect to this object online.
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