Antenatal nephromegaly and propionic acidemia: a case report

Antenatal nephromegaly and propionic acidemia: a case report

Abstract 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 correlation...

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Bibliographic Details
Main Authors: Ségolène Bernheim, Georges Deschênes, Manuel Schiff, Isabelle Cussenot, Olivier Niel
Format: Article
Language:English
Published: BMC 2017-03-01
Series:BMC Nephrology
Subjects:
Propionic acidemia
Nephromegaly
Antenatal diagnosis
Neonatal renal failure
Metabolic disease
Case report
Online Access:http://link.springer.com/article/10.1186/s12882-017-0535-4

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http://link.springer.com/article/10.1186/s12882-017-0535-4

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