Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Titel:
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Auteur:
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.