Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

BACKGROUND: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children’s health-related quality of life (HRQOL) and its physical and psychosocial domains of functioning has never been i...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Eggink, Hendriekje, Kuiper, Anouk, Peall, Kathryn J, Contarino, Maria Fiorella, Bosch, Annet M, Post, Bart, Sival, Deborah A, Tijssen, Marina AJ, de Koning, Tom J
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4254263/
https://ncbi.nlm.nih.gov/pubmed/25425461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0177-6
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