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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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Publicado no: | J Magn Reson Imaging |
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Main Authors: | , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2012
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Assuntos: | |
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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