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Phenylketonuria screening in the Republic of Macedonia

Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of me...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Kocova, Mirjana, Anastasovska, Violeta
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4975894/
https://ncbi.nlm.nih.gov/pubmed/27496147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0483-2
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