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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Dried Blood Spot Testing

Diagnosis Diagnostic Techniques and Procedures Clinical Laboratory Techniques Clinical Chemistry Tests Blood Chemical Analysis Dried Blood Spot Testing

2 articoli — 2021-2023

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...

EL Caso contributivo
IperCKemia asintomatica: la malattia di Pompe late-onset

Borelli E, Casciana ML, Salemi C, Sordelli S, Fasoli S

2021/4 — pag. 105-108 — DOI

The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of...

Argomenti correlati
Cystic fibrosis (132) Mass Screening (129) Neonatal Screening (123) Fibrosi cistica (107) screening neonatale (56) Delayed Diagnosis (49) Metabolism, Inborn Errors (31) Newborn screening (27) Creatine kinase (23) Enzyme Replacement Therapy (19) Muscular Atrophy, Spinal (18) Spinal muscular atrophy (15) Congenital hypothyroidism (15) Ipotiroidismo congenito (14) Terapia enzimatica sostitutiva (13) Atrofia muscolare spinale (13) Inborn errors of metabolism (12) Phenylketonurias (11) Errori congeniti del metabolismo (7) Pompe disease (7)