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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2012
Ábhair:
Article
Rochtain Ar Líne: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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