Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature
Savasta, Salvatore, Bassanese, Francesco, Buschini, Chiara, Foiadelli, Thomas, Trabatti, Chiara, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry, Simoncelli, Annamaria, Marseglia, GianLanguage:
english
Journal:
Journal of Pediatric Genetics
DOI:
10.1055/s-0038-1676603
Date:
December, 2018
File:
PDF, 557 KB
english, 2018