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within Matthias R Baumgartner Remove this filter Human Genetics Remove this filter Molecular Medicine Remove this filter Pediatrics Remove this filter

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    Chapter

    Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

    Introduction: Progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup urine disease is resulting...

    Nina A. Zeltner, Markus A. Landolt, Matthias R. Baumgartner… in JIMD Reports, Volume 31 (2017)

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    Chapter

    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)