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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 47, p 47 (2022)
Open Access (DOAJ)
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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
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
Development of Strategies to Decrease False Positive Results in Newborn Screening
저자
by
Sabrina Malvagia
;
Giulia Forni
;
Daniela Ombrone
;
Giancarlo la Marca
.
소스
International Journal of Neonatal Screening, Vol 6, Iss 4, p 84 (2020)
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6 . Academic Journal
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies
저자
by
Serena Catarzi
;
Anna Caciotti
;
Janita Thusberg
;
Rodolfo Tonin
;
Sabrina Malvagia
, et al.
소스
The Scientific World Journal, Vol 2013 (2013)
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7 .
Blood sulfatides as disease biomarker for metachromatic leukodystrophy: Disease characterization, early diagnosis, and response to treatment
저자
by
Valeria Calbi
;
Francesca Fumagalli
;
Elena Sophia Fratini
;
Andrea Palasciano
;
Salvatore Recupero
, et al.
소스
Molecular Genetics and Metabolism
. 138:107043
Web of Science
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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 .
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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7 .
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
Serena Motta
;
Jean-Louis Guéant
;
Giancarlo Parenti
;
Maria Alice Donati
;
Giancarlo la Marca
, et al.
소스
Clinical Epigenetics
Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩
Clinical Epigenetics, BioMed Central, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩
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