Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency

Author:

Casarano M.,Alessandrì M G.,Salomons G. S.,Moretti E.,Jakobs C.,Gibson K. M.,Cioni G.,Battini R.

Publisher

Springer Berlin Heidelberg

Reference31 articles.

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2. Blasi P, Boyl PP, Ledda M et al (2002) Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab 76:348–362

3. Caselli MC, Casadio P (1995) Il primo vocabolario del bambino: guida all’uso del questionario Mac Arthur per la valutazione della comunicazione e del linguaggio nei primi anni di vita. Franco Angeli, Milano

4. Di Rosa G, Malaspina P, Blasi P et al (2009) Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency. J Inherit Metab Dis DOI 10.1007/S10545-009-1154-4

5. Dunn LM, Dunn LM (1997) Peabody Picture Vocabulary Test-PPVT – 3rd Edition. Minneapolis (MN). American Guidance Service. Italian adaptation: stella G, Pizzoli C, Tressoldi P (2000) PPVT-revised. Torino: Omega Edition

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