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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4969260/ https://www.ncbi.nlm.nih.gov/pubmed/27504266 http://dx.doi.org/10.1016/j.ymgmr.2016.07.007

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