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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Genet Metab Rep
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2016
Teme:
Case Report
Online dostop: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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