𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family

✍ Scribed by Aida Lemes; Paola Blasi; Gabriel Gonzales; Maria E. Russi; Roberto Quadrelli; Andrea Novelletto; Patrizia Malaspina

Book ID
106374071
Publisher
Springer
Year
2006
Tongue
English
Weight
140 KB
Volume
29
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Neurotransmitter alterations in embryoni
Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development
✍ Erwin EW Jansen; Eduard Struys; Cornelis Jakobs; Elizabeth Hager; Carter O Snead πŸ“‚ Article πŸ“… 2008 πŸ› BioMed Central 🌐 English βš– 890 KB

## Abstract ## Background SSADH (aldehyde dehydrogenase 5a1 (Aldh5a1); Ξ³-hydroxybutyric (GHB) aciduria) deficiency is a defect of GABA degradation in which the neuromodulators GABA and GHB accumulate. The human phenotype is that of nonprogressive encephalopathy with prominent bilateral discolorati

Mutational spectrum of the succinate sem
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency
✍ Shinjiro Akaboshi; Boris M. Hogema; Andrea Novelletto; Patrizia Malaspina; Gajja πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 218 KB

Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from