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Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

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Harbulot, Carole Paquay, Stéphanie [UCL] Dorboz, Imen Pichard, Samia Bourillon, Agnès Schiff, Manuel

MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2016
Language Anglais
Journal information "Molecular Genetics and Metabolism Reports" - Vol. 7, p. 8-10 (2016)
Peer reviewed yes
Publisher Elsevier BV (Amsterdam)
issn 2214-4269
e-issn 2214-4269
Publication status Publié
Affiliation UCL - (MGD) Neuropédiatrie
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Bibliographic reference Harbulot, Carole ; Paquay, Stéphanie ; Dorboz, Imen ; Pichard, Samia ; Bourillon, Agnès ; et. al. Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.. In: Molecular Genetics and Metabolism Reports, Vol. 7, p. 8-10 (2016)
Permanent URL http://hdl.handle.net/2078.1/194946