IRIS
FECAROTTA, SIMONA
 Distribuzione geografica
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Continente #
AS - Asia 1.555
NA - Nord America 1.372
EU - Europa 1.223
SA - Sud America 188
AF - Africa 44
OC - Oceania 3
Totale 4.385
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Nazione #
US - Stati Uniti d'America 1.319
SG - Singapore 671
RU - Federazione Russa 520
VN - Vietnam 318
IT - Italia 299
CN - Cina 296
BR - Brasile 147
HK - Hong Kong 115
DE - Germania 97
FR - Francia 78
NL - Olanda 61
GB - Regno Unito 47
CA - Canada 33
FI - Finlandia 30
IN - India 28
JP - Giappone 25
BD - Bangladesh 19
UA - Ucraina 19
CI - Costa d'Avorio 17
KR - Corea 16
IE - Irlanda 14
MX - Messico 14
SE - Svezia 14
IQ - Iraq 12
PL - Polonia 12
TH - Thailandia 12
AR - Argentina 11
EC - Ecuador 10
LT - Lituania 8
UY - Uruguay 8
PH - Filippine 7
ID - Indonesia 6
PK - Pakistan 6
TR - Turchia 6
VE - Venezuela 6
ZA - Sudafrica 6
AT - Austria 4
DZ - Algeria 4
TN - Tunisia 4
CL - Cile 3
ES - Italia 3
KE - Kenya 3
MA - Marocco 3
PT - Portogallo 3
TW - Taiwan 3
AL - Albania 2
AU - Australia 2
AZ - Azerbaigian 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
EG - Egitto 2
HR - Croazia 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LV - Lettonia 2
OM - Oman 2
RS - Serbia 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
BB - Barbados 1
BE - Belgio 1
BY - Bielorussia 1
CZ - Repubblica Ceca 1
ET - Etiopia 1
IL - Israele 1
IR - Iran 1
LC - Santa Lucia 1
MD - Moldavia 1
ML - Mali 1
NE - Niger 1
NO - Norvegia 1
NP - Nepal 1
PE - Perù 1
PG - Papua Nuova Guinea 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SR - Suriname 1
TZ - Tanzania 1
Totale 4.385
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Città #
Singapore 317
San Jose 248
Ashburn 151
Moscow 116
Chandler 115
Hong Kong 106
Ho Chi Minh City 96
Beijing 84
Hefei 80
Hanoi 76
Santa Clara 72
Naples 69
Los Angeles 49
Lauterbourg 37
Amsterdam 36
The Dalles 35
Munich 32
Da Nang 24
Tokyo 22
Millbury 21
New York 20
Houston 18
Jacksonville 17
Wilmington 17
Council Bluffs 16
Montreal 15
Boston 14
Dallas 14
Lawrence 14
Napoli 14
Redondo Beach 14
São Paulo 13
Falkenstein 12
Milan 12
Nuremberg 12
Rome 12
Seoul 12
Buffalo 11
Haiphong 11
Warsaw 11
Turku 10
Chennai 9
Denver 9
Des Moines 9
Frankfurt am Main 9
Chicago 8
Dong Ket 8
Helsinki 8
London 8
Montevideo 8
Phoenix 8
Tianjin 8
Washington 8
Brooklyn 7
Princeton 7
Seattle 7
Stockholm 7
Atlanta 6
Bologna 6
Florence 6
Lappeenranta 6
Mexico City 6
Orem 6
Ottawa 6
Poplar 6
San Giorgio Del Sannio 6
Thái Nguyên 6
Toronto 6
Bangkok 5
Belo Horizonte 5
Bến Tre 5
Mumbai 5
Nanjing 5
Querétaro 5
Augusta 4
Bari 4
Can Tho 4
Guayaquil 4
Hải Dương 4
Long Xuyen 4
Quito 4
Salvador 4
San Francisco 4
San Giuseppe Vesuviano 4
Serramazzoni 4
Torre Annunziata 4
Vilnius 4
Woodbridge 4
Baghdad 3
Boardman 3
Charlotte 3
City of London 3
Dublin 3
Düsseldorf 3
Greensboro 3
Jakarta 3
Johannesburg 3
Manchester 3
Nairobi 3
Pescara 3
Totale 2.391
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Nome #
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 226
microRNAs as biomarkers in Pompe disease 189
Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases 188
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use 174
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 169
Hypermethioninemia in Campania: Results from 10 years of newborn screening 159
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 147
A real benefit of an extended neonatal screening 147
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 146
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 145
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 141
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 140
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease 138
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 136
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 134
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 132
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 126
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 125
Pharmacological chaperone therapy for lysosomal storage diseases 124
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 124
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) 121
Fatal rapidly progressive liver disease associated to a novel mutation of the perforin gene. 121
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants 118
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome 118
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 113
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 112
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 104
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy 99
Endoscopic and histological detection of ileocolonic inflammation in patients with spondyloarthropathy (SPA) 98
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 96
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 94
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy 89
Pathogenesis of Mucopolysaccharidoses, an Update 56
Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review 43
Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience 32
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency 25
Totale 4.449
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Categoria #
all - tutte 13.545
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 13.545
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022142 2 0 0 3 3 2 5 7 20 21 35 44
2022/2023276 23 26 17 15 36 24 6 34 35 35 19 6
2023/2024186 8 27 24 16 6 28 5 27 0 7 25 13
2024/20251.212 39 43 8 24 29 72 95 97 102 152 446 105
2025/20262.357 214 173 238 237 441 100 270 110 283 146 82 63
2026/202722 22 0 0 0 0 0 0 0 0 0 0 0
Totale 4.449