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Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015
CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040050/ https://www.ncbi.nlm.nih.gov/pubmed/27730080 http://dx.doi.org/10.4103/2230-8210.190556 |