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1 . 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
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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7 . Academic Journal
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
저자
by
Catia Cavicchi
;
Chiara Chilleri
;
Antonella Fioravanti
;
Lorenzo Ferri
;
Francesco Ripandelli
, et al.
소스
International Journal of Molecular Sciences, Vol 19, Iss 2, p 345 (2018)
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7 .
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI
저자
by
Nicola Brunetti-Pierri
;
Rita Ferla
;
Virginia Maria Ginocchio
;
Alessandro Rossi
;
Simona Fecarotta
, et al.
소스
NEJM Evidence
. 1
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7 .
Lysosomals
저자
by
Silvia Funghini
;
Sabrina Malvagia
;
Giulia Polo
;
Giancarlo la Marca
.
소스
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
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6 .
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)
저자
by
Carlo Dionisi-Vici
;
Silvia Funghini
;
Sabrina Malvagia
;
Diego Martinelli
;
Giancarlo la Marca
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 59:165-171
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7 .
LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization
저자
by
Fabio Villanelli
;
Sabrina Malvagia
;
Silvia Funghini
;
Roberta Damiano
;
Maria Luisa Della Bona
, et al.
소스
Clinica Chimica Acta
. 488:98-103
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7 .
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program
저자
by
Daniela Ombrone
;
Silvia Funghini
;
Giancarlo la Marca
;
Massimo Mura
;
Chiara Azzari
, et al.
소스
Clinical chemistry and laboratory medicineReferences
. 59(10)
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Scopus
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7 .
High frequency of biotinidase deficiency in Italian population identified by newborn screening
저자
by
Giancarlo la Marca
;
Silvia Funghini
;
Anna Caciotti
;
Rodolfo Tonin
;
Amelia Morrone
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100689-(2020)
Molecular Genetics and Metabolism Reports
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