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List of works by Simona Fecarotta

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

scientific article published on 23 July 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.

scientific article published on 5 April 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

scientific article published on 07 October 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

scientific article published on 01 May 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

scientific article published on 15 May 2020

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

scientific article published on 29 July 2011

Growth hormone deficiency in a patient with lysinuric protein intolerance

scientific article published on 15 June 2006

Hypermethioninemia in Campania: Results from 10 years of newborn screening

scientific article published on 11 October 2019

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

scientific article published on 13 May 2013

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

scientific article published on 04 June 2019

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

scientific article

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

scholarly article

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

scientific article published on 28 February 2009

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

scientific article

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

scientific article published on 26 September 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 ⬇️

scientific article published on May 13, 2003

Pathogenesis of Mucopolysaccharidoses, an Update

scientific article published on 04 April 2020

Pharmacological chaperone therapy for lysosomal storage diseases

scientific article

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.

scientific article

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

scientific article published on February 22, 2011

microRNAs as biomarkers in Pompe disease

scientific article published on 12 July 2018

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