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Benedicht Wermuth

4

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Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis

2005 Acta Paediatrica
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Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

2003 Human Mutation
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Mutation analysis in patients with N-acetylglutamate synthase deficiency†

2003 Human Mutation
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