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1 . Academic Journal
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
저자
by
Roberto Franceschi
;
Evelina Maines
;
Maria Bellizzi
;
Francesca Rivieri
;
Andrea Bacca
, et al.
소스
Archives of Endocrinology and Metabolism, Vol 67, Iss 1, Pp 143-149 (2023)
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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)
Open Access (DOAJ)
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7 . Academic Journal
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
저자
by
Alice Maguolo
;
Giulia Rodella
;
Alice Dianin
;
Irene Monge
;
Martina Messina
, et al.
소스
Frontiers in Pediatrics, Vol 9 (2021)
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7 . Academic Journal
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism
저자
by
Alice Maguolo
;
Giulia Rodella
;
Alejandro Giorgetti
;
Marion Nicolodi
;
Rui Ribeiro
, et al.
소스
Genes, Vol 13, Iss 2, p 233 (2022)
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7 . Academic Journal
Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
저자
by
Paolo Cavarzere
;
Margherita Mauro
;
Monica Vincenzi
;
Silvana Lauriola
;
Francesca Teofoli
, et al.
소스
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-6 (2018)
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7 .
Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test
저자
by
Paolo Cavarzere
;
Marta Camilot
;
Laura Palma
;
Silvana Lauriola
;
Rossella Gaudino
, et al.
소스
Hormone Research in Paediatrics
. 95:255-263
Web of Science
Scopus
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7 .
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
저자
by
Roberto Franceschi
;
Evelina Maines
;
Maria Bellizzi
;
Francesca Rivieri
;
Andrea Bacca
, et al.
소스
Archives of Endocrinology and Metabolism
.
Open Access (OpenAIRE)
Scopus
JCR 저널정보
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7 .
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience
저자
by
Marta Camilot
;
R. Nurti
;
Gaetano Cantalupo
;
Alice Maguolo
;
F. Lupi
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100632-(2020)
Molecular Genetics and Metabolism Reports
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Scopus
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7 .
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
저자
by
Monica Vincenzi
;
Roberta Zordan
;
Marta Camilot
;
Gaetano Vattemi
;
Paola Tonin
, et al.
소스
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7 . Academic Journal
Implementation of a Congenital Hypothyroidism Newborn Screening Procedure with Mutation Detection on GenomicDNA Extracted from Blood Spots The Experience of the Italian Northeastern Reference Center.
저자
by
Marta Camilot
;
Francesca Teofoli
;
Monica Vincenzi
;
Francesca Federici
;
Silvia Perlini
, et al.
소스
Genetic Testing
. Winter2007, Vol. 11 Issue 4, p387-390. 4p.
Scopus
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