Response to Therapy in Carnitine/Acylcarnitine Translocase (CACT) Deficiency Due to a Novel Missense Mutation

Vito Iacobazzi, Marzia Pasquali, Rani Singh, Dietrich Matern, Piero Rinaldo, Cristina Amat Di San Filippo, Ferdinando Palmieri, Nicola Longo

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31 Scopus citations

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Medicine & Life Sciences