IRIS
FECAROTTA, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 550
EU - Europa 302
AS - Asia 156
AF - Africa 18
OC - Oceania 2
SA - Sud America 1
Totale 1.029
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Nazione #
US - Stati Uniti d'America 544
IT - Italia 165
SG - Singapore 96
CN - Cina 44
NL - Olanda 31
DE - Germania 23
FR - Francia 18
CI - Costa d'Avorio 17
GB - Regno Unito 15
UA - Ucraina 15
FI - Finlandia 12
IE - Irlanda 12
VN - Vietnam 9
CA - Canada 6
SE - Svezia 6
IN - India 4
AU - Australia 2
RS - Serbia 2
RU - Federazione Russa 2
AR - Argentina 1
HK - Hong Kong 1
IR - Iran 1
KG - Kirghizistan 1
LV - Lettonia 1
MA - Marocco 1
Totale 1.029
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Città #
Chandler 116
Singapore 80
Santa Clara 60
Ashburn 44
Naples 33
Amsterdam 29
Millbury 21
Wilmington 17
Jacksonville 16
Lawrence 15
Napoli 14
Boston 13
Houston 13
Beijing 11
Des Moines 10
Dong Ket 8
Princeton 7
Rome 6
San Giorgio Del Sannio 6
Nanjing 5
Ottawa 5
Washington 5
Augusta 4
Falkenstein 4
Florence 4
Helsinki 4
Milan 4
Serramazzoni 4
Woodbridge 4
Council Bluffs 3
Los Angeles 3
Pinneberg 3
Tianjin 3
Torre Annunziata 3
Volla 3
Adrano 2
Belgrade 2
Boardman 2
Bologna 2
Boscotrecase 2
Cambridge 2
Changchun 2
Dallas 2
Denver 2
Huizhou 2
Lappeenranta 2
London 2
Lucca 2
Modena 2
Munich 2
Nanchang 2
Norwalk 2
Pescara 2
Portici 2
Redwood City 2
Seattle 2
Shenyang 2
Ardabil 1
Bacoli 1
Bishkek 1
Bournemouth 1
Brisbane 1
Carpi 1
Caserta 1
Casoria 1
Castellammare di Stabia 1
Changsha 1
Dearborn 1
Dongguan 1
Dublin 1
Ercolano 1
Fairfield 1
Frattamaggiore 1
Hebei 1
Hong Kong 1
Hyderabad 1
Jiaxing 1
Kenitra 1
Kronberg 1
Kunming 1
Lissone 1
Marano Di Napoli 1
Morcone 1
Morgan Hill 1
Moscow 1
Mumbai 1
Puerto Eldorado 1
Pune 1
Quarto 1
Quartu Sant'elena 1
Riga 1
Taizhou 1
Tangshan 1
Teramo 1
The Dalles 1
Toronto 1
Verdellino 1
Xi'an 1
Totale 665
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Nome #
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 80
microRNAs as biomarkers in Pompe disease 64
Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases 63
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 54
Hypermethioninemia in Campania: Results from 10 years of newborn screening 51
Pharmacological chaperone therapy for lysosomal storage diseases 48
A real benefit of an extended neonatal screening 48
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 46
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 42
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 42
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use 42
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 41
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease 40
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 33
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 33
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 31
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 31
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 30
Fatal rapidly progressive liver disease associated to a novel mutation of the perforin gene. 28
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 24
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 24
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 23
Pathogenesis of mucopolysaccharidoses, an update 22
Endoscopic and histological detection of ileocolonic inflammation in patients with spondyloarthropathy (SPA) 22
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 22
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants 19
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial 19
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy 17
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy 16
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome 15
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 14
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) 2
Totale 1.086
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Categoria #
all - tutte 5.288
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.288
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202058 0 0 0 0 0 3 10 2 3 6 13 21
2020/2021102 2 3 13 4 8 18 9 6 13 1 14 11
2021/2022146 2 0 0 3 3 2 5 7 20 22 36 46
2022/2023281 24 26 18 15 36 24 6 34 36 35 19 8
2023/2024189 8 27 24 17 6 28 6 28 0 7 25 13
2024/2025212 40 44 8 26 29 65 0 0 0 0 0 0
Totale 1.086