Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Background: MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. Objectives: To report transient neonatal renal findings in MEGDEL syndrome. Results: This 7 year-old girl was th...

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Bibliographic Details
Main Authors: Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff
Format: Article
Language:English
Published: Elsevier 2016-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial disease
MEGDEL
SERAC1
Kidney
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300131

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http://www.sciencedirect.com/science/article/pii/S2214426916300131

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