Hat mitgewirkt an:
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
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U-IMD: the first Unified European registry for inherited metabolic diseases
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder