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Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review

BACKGROUND: In recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growin...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Zeltner, Nina A, Huemer, Martina, Baumgartner, Matthias R, Landolt, Markus A
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4219016/
https://ncbi.nlm.nih.gov/pubmed/25344299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0159-8
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