| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6066111 | Journal of Allergy and Clinical Immunology | 2014 | 8 Pages |
Abstract
TMS is a valid method for diagnosis of PNP deficiency on DBSs of affected patients at a negligible cost. TMS identifies newborns with PNP deficiency, whereas TREC or KREC measurement alone can fail.
Keywords
DBSTMSDelayed-onsetdGuoKRECSCIDPNPCIDTRECβ-actinadenosine deaminaseInherited disorderinternal standardLate-onsetT-cell receptor excision circleTandem mass spectrometryActbNewborn screeningSCID, Severe combined immunodeficiencyDried blood spotADAPurine nucleoside phosphorylaseCombined immunodeficiency
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Authors
Giancarlo PharmSc, Clementina MD, Elisa BSc, Francesca BSc, Sabrina BSc, Silvia PhD, Maria BSc, Claudia BSc, Francesca MD, Daniela BSc, Maria Luisa PharmSc, Carsten MD, Stephan MD, Nicholas MD, Andrew R. MD, Katja Weinacht, Fatih MD, Julia MD, Chiara MD,