IRIS
FECAROTTA, SIMONA
 Distribuzione geografica
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Continente #
AS - Asia 1.162
EU - Europa 1.128
NA - Nord America 898
SA - Sud America 167
AF - Africa 36
OC - Oceania 3
Totale 3.394
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Nazione #
US - Stati Uniti d'America 859
SG - Singapore 636
RU - Federazione Russa 520
CN - Cina 268
IT - Italia 262
BR - Brasile 136
HK - Hong Kong 97
DE - Germania 94
VN - Vietnam 80
NL - Olanda 60
GB - Regno Unito 43
FR - Francia 41
FI - Finlandia 28
CA - Canada 25
IN - India 22
UA - Ucraina 19
CI - Costa d'Avorio 17
SE - Svezia 14
IE - Irlanda 12
KR - Corea 12
MX - Messico 12
PL - Polonia 11
EC - Ecuador 10
AR - Argentina 9
JP - Giappone 9
LT - Lituania 8
BD - Bangladesh 7
IQ - Iraq 7
ID - Indonesia 6
UY - Uruguay 6
ZA - Sudafrica 5
AT - Austria 4
MA - Marocco 3
PK - Pakistan 3
TR - Turchia 3
VE - Venezuela 3
AU - Australia 2
AZ - Azerbaigian 2
DZ - Algeria 2
ES - Italia 2
KE - Kenya 2
KZ - Kazakistan 2
PT - Portogallo 2
RS - Serbia 2
TN - Tunisia 2
UZ - Uzbekistan 2
BE - Belgio 1
BY - Bielorussia 1
CL - Cile 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ET - Etiopia 1
HR - Croazia 1
IL - Israele 1
IR - Iran 1
KG - Kirghizistan 1
LC - Santa Lucia 1
LV - Lettonia 1
MD - Moldavia 1
ML - Mali 1
NE - Niger 1
PE - Perù 1
PG - Papua Nuova Guinea 1
PY - Paraguay 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TW - Taiwan 1
TZ - Tanzania 1
Totale 3.394
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Città #
Singapore 292
Moscow 116
Chandler 115
Ashburn 107
Hong Kong 97
Beijing 82
Hefei 80
Naples 65
Santa Clara 64
Los Angeles 44
Amsterdam 36
Munich 32
Ho Chi Minh City 31
Millbury 21
Houston 17
Wilmington 17
Jacksonville 16
Boston 14
Hanoi 14
Lawrence 14
Napoli 14
Redondo Beach 14
The Dalles 14
Falkenstein 12
Montreal 12
New York 12
Seoul 12
São Paulo 12
Milan 11
Nuremberg 11
Buffalo 10
Rome 10
Turku 10
Warsaw 10
Chennai 9
Council Bluffs 9
Denver 9
Des Moines 9
Tokyo 9
Dong Ket 8
Frankfurt am Main 8
Helsinki 8
London 8
Tianjin 8
Washington 8
Da Nang 7
Dallas 7
Princeton 7
Stockholm 7
Bologna 6
Montevideo 6
Ottawa 6
Phoenix 6
Poplar 6
San Giorgio Del Sannio 6
Seattle 6
Belo Horizonte 5
Chicago 5
Mexico City 5
Nanjing 5
Querétaro 5
Atlanta 4
Augusta 4
Brooklyn 4
Florence 4
Guayaquil 4
Lappeenranta 4
Lauterbourg 4
Mumbai 4
Orem 4
Quito 4
San Giuseppe Vesuviano 4
Serramazzoni 4
Vilnius 4
Bari 3
Düsseldorf 3
Jakarta 3
Johannesburg 3
Manchester 3
Pinneberg 3
Porto Alegre 3
Rotterdam 3
Salvador 3
Toronto 3
Torre Annunziata 3
Volla 3
Woodbridge 3
Adrano 2
Ambato 2
Ankara 2
Baghdad 2
Baku 2
Belgrade 2
Bexley 2
Boardman 2
Boscotrecase 2
Brasília 2
Bắc Ninh 2
Cambridge 2
Campo Bom 2
Totale 1.743
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Nome #
Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases 163
microRNAs as biomarkers in Pompe disease 157
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 156
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 142
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use 130
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 128
Hypermethioninemia in Campania: Results from 10 years of newborn screening 125
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 123
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 118
A real benefit of an extended neonatal screening 118
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease 111
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 110
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 108
Pharmacological chaperone therapy for lysosomal storage diseases 107
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 107
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 106
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 105
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 102
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 101
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants 98
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome 96
Fatal rapidly progressive liver disease associated to a novel mutation of the perforin gene. 94
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 92
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 88
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 87
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) 86
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 82
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy 81
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 80
Endoscopic and histological detection of ileocolonic inflammation in patients with spondyloarthropathy (SPA) 75
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 72
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy 70
Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review 23
Pathogenesis of Mucopolysaccharidoses, an Update 15
Totale 3.456
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Categoria #
all - tutte 10.740
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 10.740
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202168 0 0 0 0 0 18 6 6 13 1 13 11
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
2025/20261.386 214 173 238 237 441 83 0 0 0 0 0 0
Totale 3.456