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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
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.,Volume:
8
Language:
english
Journal:
Molecular Genetics and Metabolism Reports
DOI:
10.1016/j.ymgmr.2016.07.007
Date:
September, 2016
File:
PDF, 536 KB
english, 2016