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1 . Academic Journal
Biomarkers for gene therapy clinical trials of lysosomal storage disorders
저자
by
Rossi, Alessandro
;
Malvagia, Sabrina
;
la Marca, Giancarlo
;
Parenti, Giancarlo
;
Brunetti-Pierri, Nicola
.
소스
In
Molecular Therapy
4 September 2024 32(9):2930-2938
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7 . Academic Journal
Expanded Newborn Screening for Inborn Errors of Immunity: The Experience of Tuscany
저자
by
Ricci, Silvia
;
Guarnieri, Valentina
;
Capitanini, Francesca
;
Pelosi, Caterina
;
Astorino, Valeria
, et al.
소스
In
The Journal of Allergy and Clinical Immunology: In Practice
June 2024 12(6):1622-1630
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7 . Primary Source
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program
저자
by
Malvagia, Sabrina
;
Funghini, Silvia
;
Della Bona, Maria
;
Ombrone, Daniela
;
Mura, Massimo
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 59(10):e401-e404
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7 . Academic Journal
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients
저자
by
Malvagia, Sabrina
;
Ferri, Lorenzo
;
Della Bona, Maria
;
Borsini, Walter
;
Cirami, Calogero Lino
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 59(9):1516-1526
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7 . Academic Journal
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)
저자
by
Casetta, Bruno
;
Malvagia, Sabrina
;
Funghini, Silvia
;
Martinelli, Diego
;
Dionisi-Vici, Carlo
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 59(1):165-171
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7 . Academic Journal
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
저자
by
Cavicchi, Catia
;
Oussalah, Abderrahim
;
Falliano, Silvia
;
Ferri, Lorenzo
;
Gozzini, Alessia
, et al.
소스
Clinical Epigenetics
. 13(1)
Open Access (BioMed Central)
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7 . Academic Journal
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
저자
by
Margherita Ruoppolo
;
Sabrina Malvagia
;
Sara Boenzi
;
Carla Carducci
;
Carlo Dionisi-Vici
, et al.
소스
International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
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7 . Academic Journal
Development of a fast LC-MS/MS protocol for combined measurement of six LSDs on dried blood spot in a newborn screening program
저자
by
Scolamiero, Emanuela
;
Casetta, Bruno
;
Malvagia, Sabrina
;
Tanigawa, Tetsuo
;
Forni, Giulia
, et al.
소스
In
Journal of Pharmaceutical and Biomedical Analysis
20 February 2019 165:135-140
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7 . Academic Journal
Data in support for the measurement of heparan sulfate and dermatan sulfate by LC–MS/MS analysis
저자
by
Giulia Forni
;
Sabrina Malvagia
;
Silvia Funghini
;
Emanuela Scolamiero
;
Massimo Mura
, et al.
소스
Data in Brief, Vol 21, Iss , Pp 2398-2404 (2018)
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7 . Academic Journal
High frequency of biotinidase deficiency in Italian population identified by newborn screening
저자
by
Silvia Funghini
;
Rodolfo Tonin
;
Sabrina Malvagia
;
Anna Caciotti
;
Maria Alice Donati
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100689- (2020)
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