Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Molecular Genetics And Metabolism Reports
Donti, Taraka R TR; Cappuccio, Gerarda G; Hubert, Leroy L; Neira, Juanita J; Atwal, Paldeep S PS; Miller, Marcus J MJ; Cardon, Aaron L AL; Sutton, V Reid VR; Porter, Brenda E BE; Baumer, Fiona M FM; Wangler, Michael F MF; Sun, Qin Q; Emrick, Lisa T LT; Elsea, Sarah H SH