Sequeira, SRodrigues, MJacinto, SWevers, RAWortmann, SB2019-04-082019-04-082017Neuropediatrics. 2017 Oct;48(5):382-384http://hdl.handle.net/10400.17/3232engBrainBrain DiseasesCarboxylic Ester HydrolasesChildDeafnessFemaleHumansMetabolism, Inborn ErrorsPhenotypeSyndromeMutationHDE MTBHDE GENHDE NEU PEDMEGDEL Syndrome: Expanding the Phenotype and New Mutationsjournal article10.1055/s-0037-1602833