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SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site |
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Titel: |
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site |
Auteur: |
Leo, Sara Capo, Concetta Ciminelli, Bianca Maria Iacovelli, Federico Menduti, Giovanna Funghini, Silvia Donati, Maria Alice Falconi, Mattia Rossi, Luisa Malaspina, Patrizia |
Verschenen in: |
Metabolic brain disease |
Paginering: |
Jaargang 32 (2017) nr. 5 pagina's 1383-1388 |
Jaar: |
2017 |
Inhoud: |
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Uitgever: |
Springer US, New York |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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