1 |
Culture of lymphoblastoid line from blood sample |
- |
- |
- |
- |
102 1件: 102 💬 |
2 |
Depakine |
- |
- |
- |
- |
102 1件: 102 💬 |
3 |
Other: functional involvement of identified epigenetic alterations |
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- |
- |
- |
102 1件: 102 💬 |
4 |
Other: generation of induced pluripotent stem cells (ipsc) from fibroblasts obtained by skin biopsy |
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- |
- |
- |
102 1件: 102 💬 |
5 |
Other: histone acetylation profiles of cells of srt patients with crebbp mutations |
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- |
- |
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102 1件: 102 💬 |
6 |
Procedure: skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 srt patients included. |
- |
- |
- |
- |
102 1件: 102 💬 |
7 |
Sodium valproate |
Valproic acid |
1件: D00399 D00399 💬 |
ABAT 7件: ABAT, ALDH5A1, CACNA1G, CACNA1H, CACNA1I, GAD1, GAD2 💬 |
Alanine, aspartate and glutamate metabolism 17件: Alanine, aspartate and glutamate metabolism, Aldosterone synthesis and secretion, Butanoate metabolism, Calcium signaling pathway, Circadian entrainment, Cortisol synthesis and secretion, Cushing syndrome, GABAergic synapse, GnRH secretion, MAPK signaling pathway, Metabolic pathways, Propanoate metabolism, Taurine and hypotaurine metabolism, Type I diabetes mellitus, Type II diabetes mellitus, Valine, leucine and isoleucine degradation, beta-Alanine metabolism |
002 4件: 2 , 90, 102, 256 💬 |
8 |
Valproate |
Valproic acid |
1件: D00399 D00399 💬 |
ABAT 7件: ABAT, ALDH5A1, CACNA1G, CACNA1H, CACNA1I, GAD1, GAD2 💬 |
Alanine, aspartate and glutamate metabolism 17件: Alanine, aspartate and glutamate metabolism, Aldosterone synthesis and secretion, Butanoate metabolism, Calcium signaling pathway, Circadian entrainment, Cortisol synthesis and secretion, Cushing syndrome, GABAergic synapse, GnRH secretion, MAPK signaling pathway, Metabolic pathways, Propanoate metabolism, Taurine and hypotaurine metabolism, Type I diabetes mellitus, Type II diabetes mellitus, Valine, leucine and isoleucine degradation, beta-Alanine metabolism |
002 6件: 2 , 3 , 90, 102, 233, 256 💬 |