Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency

Adenylosuccinate lyase (ADSL) deficiency is a rare inborn error of metabolism resulting in accumulation of metabolites including succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in the brain and other tissues. Patients with ADSL have progressive psychomotor retardat...

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Detalhes bibliográficos
Publicado no:J Magn Reson Imaging
Main Authors: Zulfiqar, Maria, Lin, Doris D.M., Van der Graaf, Marinette, Barker, Peter B., Fahrner, Jill A., Marie, Sandrine, Morava, Eva, De Boer, Lonneke, Willemsen, Michel A.A.P, Vining, Eileen, Horská, Alena, Engelke, Udo, Wevers, Ron A., Maegawa, Gustavo H.B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5025321/
https://ncbi.nlm.nih.gov/pubmed/23055421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmri.23852
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