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Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

BACKGROUND: Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression and / or potentially life-threatening crises. Many patients have to adhere to...

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Detalles Bibliográficos
Autores principales:	Zeltner, Nina A., Welsink-Karssies, Mendy M., Landolt, Markus A., Bosshard-Bullinger, Dominique, Keller, Fabia, Bosch, Annet M., Groenendijk, Marike, Grünert, Sarah C., Karall, Daniela, Rettenbacher, Beatrix, Scholl-Bürgi, Sabine, Baumgartner, Matthias R., Huemer, Martina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842257/ https://www.ncbi.nlm.nih.gov/pubmed/31703595 http://dx.doi.org/10.1186/s13023-019-1236-9

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