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  1. 1

    Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: a meta-analysis by Scharré, Svenja (Author) , Mengler, Katharina (Author) , Schnabel-Besson, Elena (Author) , Kuseyri Hübschmann, Oya (Author) , Tuncel, Ali Tunç (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Mütze, Ulrike (Author) , Kölker, Stefan (Author) ,


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  2. 2

    Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion by Mütze, Ulrike (Author) , Scharré, Svenja (Author) , Schnabel-Besson, Elena (Author) , Kuseyri Hübschmann, Oya (Author) , Hörster, Friederike (Author) , Tuncel, Ali Tunç (Author) , Kölker, Stefan (Author) , Opladen, Thomas (Author) ,


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    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 by Vill, Katharina (Author) , Kamm, Christoph (Author) , Mensch, Alexander (Author) , Weiler, Markus (Author) , Ziegler, Andreas (Author) ,


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    Newborn screening for aromatic l-amino acid decarboxylase deficiency: strategies, results, and implication for prevalence calculations by Reischl-Hajiabadi, Anna Theresa (Author) , Okun, Jürgen G. (Author) , Kohlmüller, Dirk (Author) , Manukjan, Georgi (Author) , Hegert, Sebastian (Author) , Durner, Jürgen (Author) , Schuhmann, Elfriede (Author) , Hörster, Friederike (Author) , Mütze, Ulrike (Author) , Feyh, Patrik (Author) , Hoffmann, Georg F. (Author) , Röschinger, Wulf (Author) , Janzen, Nils (Author) , Opladen, Thomas (Author) ,


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    Neugeborenenscreening auf Stoffwechsel- und Hormonstörungen: Herausforderungen in Klinik und Praxis by Nennstiel-Ratzel, Uta (Author) , Hoffmann, Georg F. (Author) , Lindner, Martin (Author) ,


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