Is antibiotic prophylaxis in children with vesicoureteral reflux effective in preventing pyelonephritis and renal scars? A randomized, controlled trial

M Pennesi, L Travan, L Peratoner, A Bordugo… - …, 2008 - publications.aap.org
OBJECTIVES. There has been intense discussion on the effectiveness of continuous
antibiotic prophylaxis for children with vesicoureteral reflux, and randomized, controlled …

[HTML][HTML] Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire

SC Grünert, TGJ Derks, K Adrian, K Al-Thihli… - Genetics in …, 2022 - Elsevier
Purpose This paper aims to report collective information on safety and efficacy of
empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD …

Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature

E Tadiotto, E Maines, D Degani, R Balter… - Pediatric Blood & …, 2018 - Wiley Online Library
Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with
transfusion‐dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic …

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

MA Elmonem, A Belanger-Quintana, A Bordugo… - Molecular genetics and …, 2020 - Elsevier
Quantitative estimates for the global impact of COVID-19 on the diagnosis and management
of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data …

Puberty is associated with increased deterioration of renal function in patients with CKD: data from the ItalKid Project

G Ardissino, S Testa, V Daccò, F Paglialonga… - Archives of disease in …, 2012 - adc.bmj.com
Objective To analyse the timing of end stage renal disease in children with chronic kidney
disease (CKD). Design A population-based cohort study. Setting A nationwide registry …

Comprehensive evaluation of plasma 7-Ketocholesterol and Cholestan-3β, 5α, 6β-Triol in an Italian cohort of patients affected by Niemann-Pick disease due to NPC1 …

M Romanello, S Zampieri, N Bortolotti, L Deroma… - Clinica Chimica …, 2016 - Elsevier
Abstract Niemann-Pick C disease (NPCD) is a rare autosomal recessive neurovisceral
disorder with a heterogeneous clinical presentation. Cholestan-3β, 5α, 6β-triol and 7 …

HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases

A Messina, A Palmigiano, F Esposito, A Fiumara… - Glycoconjugate …, 2021 - Springer
N-glycan analyses may serve uncovering disease-associated biomarkers, as well as for
profiling distinctive changes supporting diagnosis of genetic disorders of glycan …

[HTML][HTML] Expanded newborn screening in Italy using tandem mass spectrometry: two years of national experience

M Ruoppolo, S Malvagia, S Boenzi, C Carducci… - International Journal of …, 2022 - mdpi.com
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools
for secondary prevention in medicine, as it allows early diagnosis and prompt treatment …

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

C Barba, F Darra, R Cusmai, E Procopio… - … Medicine & Child …, 2016 - Wiley Online Library
Aim Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no
distinctive electroclinical pattern has been recognized. We aimed at identifying a …

[HTML][HTML] Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

A Dardis, S Zampieri, C Gellera, R Carrozzo… - Journal of clinical …, 2020 - mdpi.com
Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder
caused by mutations in NPC1 or NPC2 genes. In 2009, the molecular characterization of 44 …