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Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis.

Neurology - 22 Aug 2017

Invernizzi Federica, Panteghini Celeste, Chiapparini Luisa, Moroni Isabella, Nardocci Nardo, Garavaglia Barbara, Tonduti Davide

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PMID: 28747443
DOI: 10.1212/WNL.0000000000004270

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