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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expanded newborn screening

2 articoli — 2010-2026

RI Problemi speciali
Guida essenziale alla gestione nutrizionale nello scompenso metabolico acuto in Pediatria

Cimador V, Candela E, Pancaldi C, Biasucci G, Bortolamedi E, Ortolano R, Baronio F, Lanari M.

2026/3 — pag. 161-166 — DOI

Background - Inherited metabolic diseases (IMDs) are a heterogeneous group of rare disorders in which nutritional management is the cornerstone of therapy, both in chronic and acute phases. In cases of acute metabolic decompensation, the timely imple...

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
Neonatal Screening (109) Italy (97) Diagnosis (84) Screening neonatale (49) Genetic Testing (43) Metabolism, Inborn Errors (30) Newborn screening (24) Diet Therapy (21) Nutrizione pediatrica (18) Pediatric nutrition (16) Congenital hypothyroidism (16) Ipotiroidismo congenito (14) Acute Disease (11) Phenylketonurias (10) Metabolic diseases (9) Emergency Treatment (9) malattie metaboliche ereditarie (7) malattie metaboliche (6) Phenylketonuria (5) Nutritional Support (5)