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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...

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Detalles Bibliográficos
Autores principales: Najafi, Reza, Hashemipour, Mahin, Yaghini, Omid, Najafi, Fatemeh, Rashidianfar, Amirsalar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
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