Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

BACKGROUND: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS: Here, we repor...

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Detalles Bibliográficos
Autores principales: Vantroys, Elise, Smet, Joél, Vanlander, Arnaud V., Vergult, Sarah, De Bruyne, Ruth, Roels, Frank, Stepman, Hedwig, Roeyers, Herbert, Menten, Björn, Van Coster, Rudy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963168/
https://www.ncbi.nlm.nih.gov/pubmed/29783990
http://dx.doi.org/10.1186/s13023-018-0822-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963168/
https://www.ncbi.nlm.nih.gov/pubmed/29783990
http://dx.doi.org/10.1186/s13023-018-0822-6

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