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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Bibliografische gegevens
Gepubliceerd in:Mol Genet Metab Rep
Hoofdauteurs: Donti, Taraka R., Cappuccio, Gerarda, Hubert, Leroy, Neira, Juanita, Atwal, Paldeep S., Miller, Marcus J., Cardon, Aaron L., Sutton, V. Reid, Porter, Brenda E., Baumer, Fiona M., Wangler, Michael F., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016
Onderwerpen:
Case Report
Online toegang: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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