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A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

artículo científico publicado en 2014

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

scientific article published on 19 May 2020

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

artículo científico publicado en 2011

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

scientific article published on 06 February 2020

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

artículo científico publicado en 2019

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

scientific article published on 28 October 2020

Effects of Disease Activity on Anti–Saccharomyces cerevisiae Antibodies

artículo científico publicado en 2004

Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy

artículo científico publicado en 2020

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

artículo científico publicado en 2011

Growth hormone deficiency in a patient with lysinuric protein intolerance

artículo científico publicado en 2006

Hypermethioninemia in Campania: Results from 10 years of newborn screening

artículo científico publicado en 2019

Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

artículo científico publicado en 2013

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

artículo científico publicado en 2019

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

artículo científico publicado en 2015

Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1

artículo científico publicado en 2024

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

scientific article published on 03 March 2020

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

artículo científico publicado en 2009

Molecular and clinical characterization of albinism in a large cohort of Italian patients

artículo científico publicado en 2011

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

artículo científico publicado en 2016

New treatments for the mucopolysaccharidoses: from pathophysiology to therapy

scientific article published on 16 November 2018

Nuclear factor κB is activated in small intestinal mucosa of celiac patients ⬇️

artículo científico publicado el 13 de mayo de 2003

Pathogenesis of Mucopolysaccharidoses, an Update

artículo científico publicado en 2020

Pharmacological chaperone therapy for lysosomal storage diseases

artículo científico publicado en 2014

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

artículo científico publicado en 2015

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat ⬇️

artículo científico publicado el 22 de febrero de 2011

microRNAs as biomarkers in Pompe disease

artículo científico publicado en 2018

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