Alessandro Rossi

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa

John J. Mitchell, José E. Abdenur, Foekje de Boer, Monica Boyer et autres

Glycogen storage disease type Ia (GSDIa) is a rare, life-threatening inherited carbohydrate metabolism disorder caused by biallelic pathogenic G6PC gene variants resulting in deficiency of glucose-6-phosphatase. DTX401 is an investigational AAV8 vector containing the human G6PC gene. DTX401-CL301 is a pivotal, phase …

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Knowledge, attitudes, and practices in pediatric hypoglycemia in Italy (KAPPHy study)

Arianna Maiorana, Roberta Pajno, Francesco Tagliaferri, Alessandro Rossi et autres

PURPOSE: Childhood hypoglycemia is associated with relevant morbidity and likely long-term neurological sequelae. Diagnostic thresholds and management strategies remain quite heterogeneous, particularly beyond the neonatal period. We aimed to evaluate current diagnostic and therapeutic practices for pediatric hypoglycemia management in Italy among …

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Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey

Sarah Catharina Grünert, Mirjam Langeveld, Lisa Rudolph, Ute Spiekerkoetter et autres

Long-chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child-bearing age. So far, little …

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Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience

Mariagrazia Turturo, Alessandro Rossi, Ferdinando Barretta, Lucia Albano et autres

BACKGROUND: Carnitine uptake deficiency (CUD) is an inherited disorder caused by SLC22A5 gene variants resulting in low plasma and intracellular carnitine concentrations. Although newborn screening (NBS) enables a timely diagnosis of CUD, its efficiency is being debated. The aim of this work …

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Additional file 1 of Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience

Mariagrazia Turturo, Alessandro Rossi, Ferdinando Barretta, Lucia Albano et autres

Supplementary Material 1

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Additional file 1 of Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience

Mariagrazia Turturo, Alessandro Rossi, Ferdinando Barretta, Lucia Albano et autres

Supplementary Material 1

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The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency

Kajus Merkevičius, Dmitrii Smirnov, Lea D. Schlieben, Rebecca D. Ganetzky et autres

This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicentre survey exploring genotypes, phenotypes and survival. Data from 891 individuals (45% unpublished) were included. Of note, 53% of cases were females. Median age …

lt, at, de, us, cn, jp, it, pl, dk, nl, sa, gb, ro, hr, es, ch, fr, tr, ie, pt, cz, lv, hu, be, ee, au, cl, bd, il (code pays fourni par la source)

To assess the patterns of use of ASA-statin free combinations in primary care: a population-based study in Italy

Francesco Lapi, Ettore Marconi, Gerardo Medea, Alessandro Rossi et autres

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General Practitioners and Gut Microbiota: Surveying Knowledge and Awareness in Italy

Cesare Tosetti, Alessandra Belvedere, Massimo Berardino, L. Bertolusso et autres

Background/Objectives: The role of the intestinal microbiota in gastroenterological diseases has gained increasing relevance in general medicine. The study aimed to evaluate the knowledge and awareness of Italian general practitioners regarding gut microbiota, as well as the clinical applications of probiotics and …

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Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set

Ruben J. Overduin, Andrea B. Schreuder, Frederiec K. Withaar, Sarah Catharina Grünert et autres

PURPOSE: Health care and clinical trials for persons with liver glycogen storage diseases (GSD) can be improved by a consensus-based standard set of person-centered health outcomes, including patient-reported outcome measures. METHODS: Persons with GSD (n = 6), caregivers (n = 17), multidisciplinary …

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Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review

Ferdinando Barretta, Fabiana Uomo, Alessandra Verde, Mariagrazia Fisco et autres

Introduction: Elevated succinylacetone (SA) is the hallmark of tyrosinemia type 1, which requires immediate treatment. Mild SA elevation has also been recently reported in maleylacetoacetate isomerase deficiency (MAAID). Methods: We report on two cases of MAAID, review clinical features of MAAID and …

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Supervised—not voluntary—upper limb exercise enhances vestibular function in Parkinson’s disease

Federica Ginanneschi, David Cioncoloni, Carla Battisti, Federica Dominici et autres

Background Gait dysfunction has emerged as the greatest challenge in Parkinson disease (PD) management. Decreased vestibular efficacy may contribute to imbalance in PD. The present study aims to explore whether an upper limb aerobic exercise, performed using a device that primarily targets …

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