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    Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

    Introduction: This study is part of the “European network and registry for intoxication type metabolic diseases” (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle...

    Nina A. Zeltner, Matthias R. Baumgartner, Aljona Bondarenko… in JIMD Reports, Volume 37 (2017)