Sfoglia per Autore
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I.
2013 Ombrone D; Malvagia S; Funghini S; Giocaliere E; Della Bona ML; Forni G; De Luca A; Villanelli F; Casetta B; Guerrini R; la Marca G.
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
2014 Parenti G; Fecarotta S; la Marca G; Rossi B; Ascione S; Donati MA; Morandi LO; Ravaglia S; Pichiecchio A; Ombrone D; Sacchini M; Pasanisi MB; De Filippi P; Danesino C; Della Casa R; Romano A; Mollica C; Rosa M; Agovino T; Nusco E; Porto C; Andria G.
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
2014 la Marca G; Canessa C; Giocaliere E; Romano F; Malvagia S; Funghini S; Moriondo M; Valleriani C; Lippi F; Ombrone D; Della Bona ML; Speckmann C; Borte S; Brodszki N; Gennery AR; Weinacht K; Celmeli F; Pagel J; de Martino M; Guerrini R; Wittkowski H; Santisteban I; Bali P; Ikinciogullari A; Hershfield M; Notarangelo LD; Resti M; Azzari C.
Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry
2015 Villanelli, Fabio; Giocaliere, Elisa; Malvagia, Sabrina; Rosati, Anna; Forni, Giulia; Funghini, Silvia; Shokry, Engy; Ombrone, Daniela; Della Bona, Maria; Guerrini, Renzo; la Marca, Giancarlo
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
2015 Malvagia, S; Haynes, CA; Grisotto, L; Ombrone, D; Funghini, S; Moretti, E; Mcgreevy, KS; Biggeri, A; Guerrini, R; Yahyaoui, R; Garg, U; Seeterlin, M; Chace, D; De Jesus, VR; la Marca, G
Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.
2015 Shokry, E; Villanelli, F; Malvagia, S; Rosati, A; Forni, G; Funghini, S; Ombrone, D; Della Bona, M; Guerrini, R; la Marca, G
Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test
2016 Poggiali, S.; Ombrone, D.; Forni, G.; Malvagia, S.; Funghini, S.; Mura, M.; Pasquini, E.; Santoro, L.; Bellavia, V.; Granata, O. M.; Castana, C.; Mcgreevy, K. S.; Aronica, T. S.; la Marca, G.
Expanded newborn screening by mass spectrometry: New tests, future perspectives
2016 Ombrone, Daniela; Giocaliere, Elisa; Forni, Giulia; Malvagia, Sabrina; la Marca, Giancarlo
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program
2021 Malvagia, Sabrina; Funghini, Silvia; Della Bona, Maria; Ombrone, Daniela; Mura, Massimo; Damiano, Roberta; Ricci, Silvia; Cortimiglia, Martina; Azzari, Chiara; la Marca, Giancarlo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I. | 2013 | Ombrone D; Malvagia S; Funghini S; Giocaliere E; Della Bona ML; Forni G; De Luca A; Villanelli F; Casetta B; Guerrini R; la Marca G. | |
| A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. | 2014 | Parenti G; Fecarotta S; la Marca G; Rossi B; Ascione S; Donati MA; Morandi LO; Ravaglia S; Pichiecchio A; Ombrone D; Sacchini M; Pasanisi MB; De Filippi P; Danesino C; Della Casa R; Romano A; Mollica C; Rosa M; Agovino T; Nusco E; Porto C; Andria G. | |
| Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots | 2014 | la Marca G; Canessa C; Giocaliere E; Romano F; Malvagia S; Funghini S; Moriondo M; Valleriani C; Lippi F; Ombrone D; Della Bona ML; Speckmann C; Borte S; Brodszki N; Gennery AR; Weinacht K; Celmeli F; Pagel J; de Martino M; Guerrini R; Wittkowski H; Santisteban I; Bali P; Ikinciogullari A; Hershfield M; Notarangelo LD; Resti M; Azzari C. | |
| Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry | 2015 | Villanelli, Fabio; Giocaliere, Elisa; Malvagia, Sabrina; Rosati, Anna; Forni, Giulia; Funghini, Silvia; Shokry, Engy; Ombrone, Daniela; Della Bona, Maria; Guerrini, Renzo; la Marca, Giancarlo | |
| Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias | 2015 | Malvagia, S; Haynes, CA; Grisotto, L; Ombrone, D; Funghini, S; Moretti, E; Mcgreevy, KS; Biggeri, A; Guerrini, R; Yahyaoui, R; Garg, U; Seeterlin, M; Chace, D; De Jesus, VR; la Marca, G | |
| Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry. | 2015 | Shokry, E; Villanelli, F; Malvagia, S; Rosati, A; Forni, G; Funghini, S; Ombrone, D; Della Bona, M; Guerrini, R; la Marca, G | |
| Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test | 2016 | Poggiali, S.; Ombrone, D.; Forni, G.; Malvagia, S.; Funghini, S.; Mura, M.; Pasquini, E.; Santoro, L.; Bellavia, V.; Granata, O. M.; Castana, C.; Mcgreevy, K. S.; Aronica, T. S.; la Marca, G. | |
| Expanded newborn screening by mass spectrometry: New tests, future perspectives | 2016 | Ombrone, Daniela; Giocaliere, Elisa; Forni, Giulia; Malvagia, Sabrina; la Marca, Giancarlo | |
| The successful inclusion of ADA SCID in Tuscany expanded newborn screening program | 2021 | Malvagia, Sabrina; Funghini, Silvia; Della Bona, Maria; Ombrone, Daniela; Mura, Massimo; Damiano, Roberta; Ricci, Silvia; Cortimiglia, Martina; Azzari, Chiara; la Marca, Giancarlo |
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