Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
(2016) Molecular Genetics and Metabolism Reports — Vol. 7, p. 8-10 (2016)
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- Abstract
- MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1.
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Citations
Harbulot, C., Paquay, S., Dorboz, I., Pichard, S., Bourillon, A., Benoist, J.-F., Jardel, C., Ogier de Baulny, H., Boespflug-Tanguy, O., & Schiff, M. (2016). Transient neonatal renal failure and massive polyuria in MEGDEL syndrome. Molecular Genetics and Metabolism Reports, 7, 8-10. https://doi.org/10.1016/j.ymgmr.2016.03.001 (Original work published 2016)