Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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tandem mass spectrometry

2 articoli — 2010-2023

RI Aggiornamento
Screening neonatale esteso

Malni I, Candela E, Baldo F, Assirelli V, Daniotti M, Procopio E, Ruoppolo M, Pession A.

2023/9 — pag. 563-567 — DOI

Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The i...

RI Aggiornamento
Screening neonatale metabolico allargatoIn arrivo una nuova realtà per la pediatria

I. Bruno, A. Ventura, A. Burlina

2010/7 — pag. 429-433

Newborn expanded screening is slowly starting in Italy. The programme will screen some rare, most metabolic, diseases that could be managed and treated better if diagnosed in the first days of life. The program has been adopted in many countries in...

Argomenti correlati
Cystic fibrosis (132) Mass Screening (129) Neonatal Screening (123) Fibrosi cistica (107) Italy (96) Diagnosis (83) Screening neonatale (56) Genetic Testing (43) Metabolism, Inborn Errors (31) Newborn screening (27) Muscular Atrophy, Spinal (18) Spinal muscular atrophy (15) Congenital hypothyroidism (15) Ipotiroidismo congenito (14) Atrofia muscolare spinale (13) Inborn errors of metabolism (12) Phenylketonurias (11) Metabolic diseases (9) malattie metaboliche ereditarie (7) Errori congeniti del metabolismo (7)