Laura Fiori

Current management of biotinidase deficiency following newborn screening in Italy: evidence from a clinical nationwide survey

Francesco Tagliaferri, Egidio Candela, Giacomo Biasucci, Maria Teresa Bonati et autres

BACKGROUND: Biotinidase deficiency (BD) is a treatable inherited metabolic disorder included in the Italian expanded newborn screening program since 2017. We conducted the first national survey on BD management across Italian metabolic centres. METHODS: A cross-sectional electronic survey was conducted among all …

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Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study

Veronica Maria Tagi, C Montanari, Martina Tosi, Eliana Stucchi et autres

Background: Several inherited metabolic disorders (IMDs) require intensive and continuous nutritional management, particularly during the first year of life. Telemedicine (TM) may support care delivery in this setting, but evidence in infants remains limited. Objective: The aim of this pilot study was …

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Olipudase alfa IgE‐mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency

Laura Fiori, Veronica Maria Tagi, Silvia Beretta, C Montanari et autres

For transparency, the peer review documents associated with this article are available at https://doi.org/10.1111/pai.70375. Data sharing not applicable to this article as no datasets were generated or analysed during the current study.

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Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi et autres

ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: …

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An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies

C Montanari, Veronica Maria Tagi, Martina Tosi, Eliana Stucchi et autres

Inborn Errors of Metabolism (IEMs) account for a significant proportion of cardiomyopathies presenting with a wide spectrum of cardiac involvement, from isolated manifestations to multisystem syndromes. The manuscript explores the primary forms of cardiac complications linked to various IEMs, underlining the pathophysiological …

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Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation

Alessandra Vasco, Clarissa Berardo, Simona Lucchi, Laura Cappelletti et autres

Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel. It is caused by mutations in the ACAT1 gene, which encodes the mitochondrial acetyl-CoA acetyltransferase. Its deficiency impairs the …

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Leveraging User-Friendly Mobile Medical Devices to Facilitate Early Hospital Discharges in a Pediatric Setting: A Randomized Trial Study Protocol

Gianvincenzo Zuccotti, Marta Marsilio, Laura Fiori, Paola Anna Erba et autres

Background: Mobile technology is increasingly prevalent in healthcare, serving various purposes, including remote health monitoring and patient self-management, which could prove beneficial to early hospital discharges. Aims: This study investigates the transitional care program experience facilitating early discharges in a pediatric setting …

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Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management

C Montanari, Veronica Maria Tagi, Enza D’Auria, Vincenzo Guaia et autres

Pulmonologists may be involved in managing pulmonary diseases in children with complex clinical pictures without a diagnosis. Moreover, they are routinely involved in the multidisciplinary care of children with rare diseases, at baseline and during follow-up, for lung function monitoring. Lysosomal storage …

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Glycomacropeptide-Based Protein Substitutes for Children with Phenylketonuria in Italy: A Nutritional Comparison

Martina Tosi, Laura Fiori, Veronica Maria Tagi, Mirko Gambino et autres

Advancements in food science technology have allowed the development of new products for the therapeutic management of inherited metabolic diseases such as phenylketonuria (PKU). Glycomacropeptide (GMP), a peptide derived from casein, is naturally low in phenylalanine (Phe) and, thus, adequate for protein …

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Are Phe-Free Protein Substitutes Available in Italy for Infants with PKU All the Same?

Elvira Verduci, Martina Tosi, C Montanari, Mirko Gambino et autres

Breastfeeding or standard infant formulas, alongside phenylalanine (Phe)-free protein substitutes, constitute the dietary management for infants with PKU to guarantee protein requirements are met in compliance with metabolic tolerance. This work aims to analyse the nutritional composition of Phe-free infant protein substitutes, …

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Adverse Effects and Surgical Complications in Pediatric Patients Undergoing Vagal Nerve Stimulation for Drug-Resistant Epilepsy

Andrea Trezza, Andrea Landi, Daniele Grioni, David Pirillo et autres

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Efficacy of Vagal Nerve Stimulation in thre treatment of Infantile Spasms: effect of different tuning and stimulation cycles

Andrea Landi, Daniele Grioni, Andrea Trezza, Laura Fiori et autres