Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism
about
A pharmacokinetic evaluation and metabolite identification of the GHB receptor antagonist NCS-382 in mouse informs novel therapeutic strategies for the treatment of GHB intoxicationCorrelation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
P2860
Q28821080-6841D805-E7B0-4618-9BEE-3FE92848607FQ42755232-CAEC34E3-BCF1-4E22-BFBB-4BC1249DA971Q44436830-8DF6982B-0730-44D5-B97C-09F2EE427554Q46285756-FEF1365B-8043-49B2-885D-32D8D28F6736Q47161666-215FDBDF-6653-4FC3-BAC4-25A729CC88D1Q47713973-388D7E15-9CA9-425C-8235-E57416D94F8BQ49827097-CD5C113E-13B8-43E1-B8C5-795A5D96ADBB
P2860
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Succinic semialdehyde dehydrog ...... ic disorder of GABA metabolism
@en
type
label
Succinic semialdehyde dehydrog ...... ic disorder of GABA metabolism
@en
prefLabel
Succinic semialdehyde dehydrog ...... ic disorder of GABA metabolism
@en
P2093
P2860
P1476
Succinic semialdehyde dehydrog ...... ic disorder of GABA metabolism
@en
P2093
G R Ainslie
J-B Roullet
K M Gibson
P Malaspina
P2860
P356
10.1016/J.NEUINT.2016.06.009
P577
2016-06-13T00:00:00Z