Codice QR

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...

Descrizione completa

Salvato in:
Autori principali: Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen, Ritva Tikkanen
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI AG 2020-02-01
Serie:Cells
Soggetti:
succinic semialdehyde dehydrogenase deficiency
gamma-amino butyric acid
organic acidurias
enzyme replacement therapy
pharmacological chaperones
clinical trials
autophagy
Accesso online:https://www.mdpi.com/2073-4409/9/2/477
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne!!

Documenti analoghi