Antenatal nephromegaly and propionic acidemia: a case report

BACKGROUND: Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations betwee...

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Detalles Bibliográficos
Autores principales: Bernheim, Ségolène, Deschênes, Georges, Schiff, Manuel, Cussenot, Isabelle, Niel, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372311/
https://www.ncbi.nlm.nih.gov/pubmed/28359305
http://dx.doi.org/10.1186/s12882-017-0535-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372311/
https://www.ncbi.nlm.nih.gov/pubmed/28359305
http://dx.doi.org/10.1186/s12882-017-0535-4

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