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INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN’S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE

OBJECTIVE: To assess the initial clinical presentation of confirmed cases of inborn errors of metabolism (IEM) at a reference facility for pediatric care. METHODS: Cross-sectional, observational and descriptive study with data collection of outpatients, from January 2009 to December 2013. Inclusion...

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Detalles Bibliográficos
Autores principales: Romão, Andressa, Simon, Priscila Endlich Alves, Góes, José Eduardo Coutinho, Pinto, Louise Lapagessede Camargo, Giugliani, Roberto, de Luca, Gisele Rozone, Carvalho, Francisca Ligia Cirilo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606180/
https://www.ncbi.nlm.nih.gov/pubmed/28977297
http://dx.doi.org/10.1590/1984-0462/;2017;35;3;00012