IRIS
FIUMARA, Agata
 Distribuzione geografica
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Continente #
NA - Nord America 11.180
EU - Europa 6.251
AS - Asia 5.687
SA - Sud America 1.162
AF - Africa 558
Continente sconosciuto - Info sul continente non disponibili 15
OC - Oceania 10
Totale 24.863
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Nazione #
US - Stati Uniti d'America 10.731
SG - Singapore 3.109
RU - Federazione Russa 1.703
IT - Italia 1.534
CN - Cina 1.465
IE - Irlanda 994
BR - Brasile 967
UA - Ucraina 899
VN - Vietnam 482
CA - Canada 369
FR - Francia 335
CI - Costa d'Avorio 240
SE - Svezia 148
GB - Regno Unito 142
NG - Nigeria 133
IN - India 121
DE - Germania 109
KR - Corea 95
NL - Olanda 81
BD - Bangladesh 79
AR - Argentina 70
SN - Senegal 58
FI - Finlandia 49
MX - Messico 48
CH - Svizzera 46
PL - Polonia 39
ES - Italia 37
JP - Giappone 36
ZA - Sudafrica 36
IQ - Iraq 35
EC - Ecuador 33
HK - Hong Kong 30
ID - Indonesia 28
TR - Turchia 27
MA - Marocco 26
GR - Grecia 25
AT - Austria 24
UZ - Uzbekistan 24
PK - Pakistan 21
CO - Colombia 19
VE - Venezuela 18
CL - Cile 16
IR - Iran 15
CZ - Repubblica Ceca 14
KE - Kenya 14
PY - Paraguay 14
DZ - Algeria 13
EG - Egitto 13
EU - Europa 13
TN - Tunisia 13
LB - Libano 12
UY - Uruguay 12
LT - Lituania 11
NP - Nepal 11
AE - Emirati Arabi Uniti 10
BE - Belgio 10
KZ - Kazakistan 10
SA - Arabia Saudita 10
JO - Giordania 9
AU - Australia 8
RO - Romania 8
BG - Bulgaria 7
CR - Costa Rica 7
PE - Perù 7
PH - Filippine 7
MY - Malesia 6
AL - Albania 5
HN - Honduras 5
HU - Ungheria 5
JM - Giamaica 5
LV - Lettonia 5
BO - Bolivia 4
BY - Bielorussia 4
DO - Repubblica Dominicana 4
GE - Georgia 4
OM - Oman 4
PS - Palestinian Territory 4
SY - Repubblica araba siriana 4
TH - Thailandia 4
AZ - Azerbaigian 3
ET - Etiopia 3
MM - Myanmar 3
NO - Norvegia 3
SK - Slovacchia (Repubblica Slovacca) 3
AM - Armenia 2
AO - Angola 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BJ - Benin 2
GT - Guatemala 2
KH - Cambogia 2
KW - Kuwait 2
MN - Mongolia 2
RS - Serbia 2
SV - El Salvador 2
TW - Taiwan 2
XK - ???statistics.table.value.countryCode.XK??? 2
BB - Barbados 1
BN - Brunei Darussalam 1
BS - Bahamas 1
Totale 24.836
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Città #
Singapore 1.684
Dallas 1.602
Santa Clara 1.112
Jacksonville 1.003
Dublin 971
Chandler 875
San Jose 783
Moscow 660
Ashburn 493
Chicago 481
Boardman 430
Lawrence 275
Nanjing 275
Cambridge 273
Andover 259
Lauterbourg 246
Toronto 241
Abidjan 240
Los Angeles 215
Catania 203
Beijing 182
Des Moines 171
Ho Chi Minh City 156
San Mateo 143
Hefei 111
Hanoi 108
São Paulo 102
Houston 95
Seoul 95
Nanchang 94
Shenyang 90
Wilmington 89
Council Bluffs 82
Civitanova Marche 74
Hebei 73
Buffalo 71
Milan 70
Abuja 68
Rome 68
New York 67
Changsha 62
Lagos 62
Saint Petersburg 62
Jiaxing 59
Dakar 58
Ottawa 56
Tianjin 46
Rio de Janeiro 42
Augusta 38
Brooklyn 36
Dong Ket 35
Tokyo 34
Bremen 33
The Dalles 33
Montreal 32
Orem 29
London 28
Stockholm 28
Atlanta 27
Columbus 27
Seattle 27
Hong Kong 26
Naples 26
Piedimonte Etneo 25
Warsaw 25
Boston 23
Hangzhou 23
Phoenix 23
Denver 22
Mumbai 22
San Francisco 22
Bologna 21
Da Nang 21
Kochi 21
Belo Horizonte 20
Lappeenranta 20
Norwalk 20
Haiphong 19
Messina 19
Palermo 19
Redondo Beach 19
Johannesburg 18
Amsterdam 17
Mexico City 17
Poplar 17
Chennai 16
Kunming 16
Venice 16
Civitavecchia 15
Curitiba 15
Helsinki 15
Leawood 15
Padova 15
Jinan 14
Liberty Lake 14
Manchester 14
Munich 14
Porto Alegre 14
Turku 14
Ann Arbor 13
Totale 15.909
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Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 682
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 212
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 200
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 194
Anti-mog associated encephalitis: when steroid therapy is not enough 194
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 191
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 178
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 176
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 167
Hypoglossal nerve paralysis in a child after a dental procedure 162
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 161
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 160
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature 156
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 155
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 152
Megalencephaly Capillary Malformation Syndrome 151
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 144
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 142
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 141
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 140
A survey on Italian Patients with PMM2-CDG 137
GLYCOSYLATION DEFECTS AND EPILEPSY 136
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 134
Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients 134
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 133
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 133
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 133
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 132
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 132
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 131
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 130
Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study 130
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 129
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 128
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 127
COG6-CDG: Novel variants and novel malformation 127
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 126
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 126
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 125
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 124
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 123
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 122
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 120
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 119
Quantitative analysis of upright standing in adults with late-onset Pompe disease 119
EEG features in patients with mucopolysaccharidoses III at different disease stages. 118
Adrenoleukodystrophy. Validity of CT in the diagnosis. 117
Alterazioni cerebellari nelle malattie metaboliche. 117
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. Mol Genet Metab. 2006 Jun;88(2):192-5. Epub 2006 Apr 4. IF 2.678 116
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 116
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 115
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 115
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase 115
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency 115
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 114
alterazioni dei neurotrasmettitori 113
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region 112
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 112
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 111
Imaging findings of mucopolysaccharidoses: a pictorial review. 110
Mucopolisaccaridosi IIID, caratterisithce cliniche ed evoluzione naturale in tre pazienti 110
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 107
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 106
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 106
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic 105
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 105
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 104
Multiple sclerosis with onset at 35 months of age 103
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 102
Metabolic malformation syndromes. Beyond the Zellweger syndrome 101
La sindrome di Rett 101
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 101
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 100
null 100
Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction? 99
Primary headache in childhood associated with psychiatric disturbances: An update 99
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 98
Mucopolysaccharidoses: early diagnostic signs in infants and children 98
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 97
Hyperkinetic movement disorders in congenital disorders of glycosylation 97
Rett syndrome: Photographic evidence of rapid regression 96
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 96
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 95
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 95
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 95
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 95
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 95
Effects of enzyme replacement therapy on standing posture in patients with Pompe disease 95
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 95
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 94
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 93
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 93
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis 93
New ratio as a useful marker for early diagnosis of proximal urea cycle disorders 93
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 92
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 92
Anomalie cerebellari nelle malattie metaboliche 92
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 92
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 91
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 90
Totale 12.695
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Categoria #
all - tutte 85.969
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 85.969
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202186 0 0 0 0 0 0 0 0 0 0 0 86
2021/20222.047 237 282 19 75 296 9 289 63 207 23 60 487
2022/20233.059 312 102 26 244 302 513 29 516 788 47 107 73
2023/20241.128 80 144 65 91 45 168 13 72 15 39 219 177
2024/20254.982 58 847 350 194 1.061 445 106 255 396 534 345 391
2025/202610.082 582 320 1.836 739 1.677 1.873 1.372 238 522 501 273 149
Totale 25.244