Detalhe da pesquisa
1.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
2.
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
J Inherit Metab Dis
; 42(5): 1030-1039, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31032972
3.
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
J Inherit Metab Dis
; 41(4): 699-708, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460030
4.
Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.
J Child Neurol
; 36(13-14): 1218-1222, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34882073
5.
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.
J Child Neurol
; 36(13-14): 1223-1230, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34463169