Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
la Marca, Giancarlo, PharmSc, Canessa, Clementina, MD, Giocaliere, Elisa, BSc, Romano, Francesca, BSc, Duse, Marzia, MD, Malvagia, Sabrina, BSc, Lippi, Francesca, MD, Funghini, Silvia, BSc, Bianchi, Leila, MD, Della Bona, Maria Luisa, PharmSc, Valleriani, Claudia, BSc, Ombrone, Daniela, BSc, Moriondo, Maria, BSc, PhD, Villanelli, Fabio, BSc, Speckmann, Carsten, MD, Adams, Stuart, PhD, Gaspar, Bobby H., MD, PhD, Hershfield, Michael, MD, Santisteban, Ines, PhD, Fairbanks, Lynette, BSc, PhD, Ragusa, Giovanni, MD, Resti, Massimo, MD, de Martino, Maurizio, MD, Guerrini, Renzo, MD, Azzari, Chiara, MD, PhD
Published in Journal of allergy and clinical immunology (01.06.2013)
Published in Journal of allergy and clinical immunology (01.06.2013)
Get full text
Journal Article
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
la Marca, Giancarlo, PharmSc, Canessa, Clementina, MD, Giocaliere, Elisa, BSc, Romano, Francesca, BSc, Malvagia, Sabrina, BSc, Funghini, Silvia, PhD, Moriondo, Maria, BSc, Valleriani, Claudia, BSc, Lippi, Francesca, MD, Ombrone, Daniela, BSc, Della Bona, Maria Luisa, PharmSc, Speckmann, Carsten, MD, Borte, Stephan, MD, Brodszki, Nicholas, MD, Gennery, Andrew R., MD, Weinacht, Katja, Celmeli, Fatih, MD, Pagel, Julia, MD, de Martino, Maurizio, MD, Guerrini, Renzo, MD, Wittkowski, Helmut, MD, Santisteban, Ines, PhD, Bali, Pawan, PhD, Ikinciogullari, Aydan, MD, Hershfield, Michael, MD, Notarangelo, Luigi D., MD, Resti, Massimo, MD, Azzari, Chiara, MD
Published in Journal of allergy and clinical immunology (01.07.2014)
Published in Journal of allergy and clinical immunology (01.07.2014)
Get full text
Journal Article
Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis
Speckmann, Carsten, MD, Neumann, Carla, MD, Borte, Stephan, MD, la Marca, Giancarlo, PharmSc, Sass, Jörn Oliver, Dr.rer.nat, Wiech, Elisabeth, PhD, Fisch, Paul, MD, Schwarz, Klaus, MD, Buchholz, Bernd, MD, Schlesier, Michael, PhD, Felgentreff, Kerstin, MD, Grimbacher, Bodo, MD, Santisteban, Ines, PhD, Bali, Pawan, PhD, Hershfield, Michael S., MD, Ehl, Stephan, MD
Published in Journal of allergy and clinical immunology (01.10.2012)
Published in Journal of allergy and clinical immunology (01.10.2012)
Get full text
Journal Article