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Succinic Semialdehyde Dehydrogenase Deficiency: An Update

Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D manif...

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Autors principals: Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen, Ritva Tikkanen
Format: Artigo
Idioma:Inglês
Publicat: MDPI AG 2020-02-01
Col·lecció:Cells
Matèries:
succinic semialdehyde dehydrogenase deficiency
gamma-amino butyric acid
organic acidurias
enzyme replacement therapy
pharmacological chaperones
clinical trials
autophagy
Accés en línia:https://www.mdpi.com/2073-4409/9/2/477
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