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Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnosis and management practices for PKU in a region of Southern and Eastern Europe. Prevalence...

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Dades bibliogràfiques
Publicat a:Eur J Pediatr
Autors principals: Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau, Nenad
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4724370/
https://ncbi.nlm.nih.gov/pubmed/26350228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-015-2622-5
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