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1 SSADH deficiency has a heterogeneous spectrum and requir
2 SSADH deficiency is associated with developmental delay,
4 herited succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria) is one
7 emialdehyde dehydrogenase (ALDH5A1, encoding SSADH deficiency is a defect of 4-aminobutyric acid (GAB
8 at 4-hydroxybutyric aciduria, resulting from SSADH deficiency, is the result of genetic defects in th
9 may have therapeutic relevance for the human SSADH deficiency disease and GHB overdose and toxicity.
12 ing disruption of the GABA/glutamine axis in SSADH(-/-) mouse brain, effective pharmacotherapeutic ap
13 s review will discuss therapeutic options in SSADH deficiency, on the basis of patient experience, an
14 present new evidence for oxidative stress in SSADH(-/-) mice, significant alterations of dopamine met
18 n investigation of the molecular genetics of SSADH deficiency, we have utilized SSADH cDNA and genomi
22 netics of SSADH deficiency, we have utilized SSADH cDNA and genomic sequences to identify two point m
23 d in the physiologic fluids of patients with SSADH deficiency, and forms the mainstay of diagnosis.
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