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Diagnosis of adenylosuccinate lyase deficiency by metabolom..:
Donti, Taraka R.
;
Cappuccio, Gerarda
;
Hubert, Leroy
...
Molecular Genetics and Metabolism Reports. 8 (2016) - p. 61-66 , 2016
Link:
https://doi.org/10.1016/j.ymgmr.2016.07.007
RT Journal T1
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgmr.2016.07.007&Exemplar=1&LAN=DE A1 Donti, Taraka R. A1 Cappuccio, Gerarda A1 Hubert, Leroy A1 Neira, Juanita A1 Atwal, Paldeep S. A1 Miller, Marcus J. A1 Cardon, Aaron L. A1 Sutton, V. Reid A1 Porter, Brenda E. A1 Baumer, Fiona M. A1 Wangler, Michael F. A1 Sun, Qin A1 Emrick, Lisa T. A1 Elsea, Sarah H. PB Elsevier BV YR 2016 SN 2214-4269 JF Molecular Genetics and Metabolism Reports VO 8 SP 61 OP 66 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgmr.2016.07.007 DO https://doi.org/10.1016/j.ymgmr.2016.07.007 SF ELIB - SuUB Bremen
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