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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and physiological symptoms. The ADSL gene produces an enzyme with binary molecular roles in de novo purine synthesis and purine nucleotide recycling. The...
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Publicado no: | Mol Genet Metab Rep |
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Main Authors: | , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4969260/ https://ncbi.nlm.nih.gov/pubmed/27504266 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.07.007 |
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