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...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Metab Rep
主要な著者: Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2016
主題:
Short Communication
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908062/
https://ncbi.nlm.nih.gov/pubmed/27331002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.03.001
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