IRIS
FIUMARA, Agata
 Distribuzione geografica
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Continente #
NA - Nord America 9.734
EU - Europa 5.657
AS - Asia 4.667
SA - Sud America 1.028
AF - Africa 402
Continente sconosciuto - Info sul continente non disponibili 14
OC - Oceania 6
Totale 21.508
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Nazione #
US - Stati Uniti d'America 9.349
SG - Singapore 2.745
RU - Federazione Russa 1.703
IT - Italia 1.364
CN - Cina 1.319
IE - Irlanda 992
UA - Ucraina 896
BR - Brasile 886
CA - Canada 333
VN - Vietnam 250
CI - Costa d'Avorio 240
SE - Svezia 129
GB - Regno Unito 108
DE - Germania 98
IN - India 89
FR - Francia 68
NL - Olanda 63
AR - Argentina 58
SN - Senegal 57
CH - Svizzera 43
FI - Finlandia 37
MX - Messico 33
BD - Bangladesh 30
JP - Giappone 27
PL - Polonia 27
ZA - Sudafrica 27
EC - Ecuador 25
KR - Corea 25
GR - Grecia 23
IQ - Iraq 23
AT - Austria 22
ES - Italia 21
ID - Indonesia 21
UZ - Uzbekistan 21
MA - Marocco 18
NG - Nigeria 18
TR - Turchia 18
CO - Colombia 15
IR - Iran 15
CZ - Repubblica Ceca 14
HK - Hong Kong 14
EU - Europa 13
PY - Paraguay 12
LB - Libano 11
PK - Pakistan 11
VE - Venezuela 11
CL - Cile 9
DZ - Algeria 9
EG - Egitto 9
KE - Kenya 9
TN - Tunisia 9
UY - Uruguay 9
BE - Belgio 8
AE - Emirati Arabi Uniti 7
LT - Lituania 7
NP - Nepal 6
SA - Arabia Saudita 6
AL - Albania 5
BG - Bulgaria 5
KZ - Kazakistan 5
AU - Australia 4
CR - Costa Rica 4
HN - Honduras 4
RO - Romania 4
BY - Bielorussia 3
DO - Repubblica Dominicana 3
HU - Ungheria 3
JM - Giamaica 3
NO - Norvegia 3
PE - Perù 3
SK - Slovacchia (Repubblica Slovacca) 3
AM - Armenia 2
AZ - Azerbaigian 2
BH - Bahrain 2
BJ - Benin 2
ET - Etiopia 2
JO - Giordania 2
KH - Cambogia 2
MY - Malesia 2
OM - Oman 2
BB - Barbados 1
BN - Brunei Darussalam 1
DK - Danimarca 1
GE - Georgia 1
GN - Guinea 1
IL - Israele 1
IS - Islanda 1
KG - Kirghizistan 1
KW - Kuwait 1
LI - Liechtenstein 1
LV - Lettonia 1
ME - Montenegro 1
MK - Macedonia 1
MM - Myanmar 1
MN - Mongolia 1
MV - Maldive 1
NE - Niger 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
PA - Panama 1
Totale 21.500
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Città #
Dallas 1.589
Singapore 1.451
Santa Clara 1.088
Jacksonville 1.003
Dublin 969
Chandler 875
Moscow 660
Chicago 474
Boardman 429
Ashburn 299
Lawrence 275
Nanjing 275
Cambridge 273
Andover 259
Abidjan 240
Toronto 236
Catania 197
Los Angeles 181
Des Moines 170
Beijing 165
San Mateo 143
Hefei 110
Nanchang 94
Shenyang 90
São Paulo 89
Wilmington 89
Houston 86
Ho Chi Minh City 80
Civitanova Marche 74
Hebei 73
Buffalo 64
Changsha 62
Saint Petersburg 62
Rome 60
Hanoi 59
Jiaxing 59
Milan 58
Dakar 57
Ottawa 56
Tianjin 45
New York 43
Augusta 37
Council Bluffs 37
Dong Ket 35
Rio de Janeiro 35
Bremen 33
The Dalles 32
Brooklyn 30
Columbus 27
Tokyo 27
Piedimonte Etneo 25
Seoul 25
Seattle 24
Hangzhou 23
Stockholm 22
Kochi 21
Montreal 21
Naples 21
San Jose 21
Boston 20
London 20
Norwalk 20
San Francisco 20
Belo Horizonte 19
Redondo Beach 19
Abuja 18
Atlanta 18
Bologna 18
Messina 18
Mumbai 18
Phoenix 17
Venice 16
Warsaw 16
Civitavecchia 15
Kunming 15
Leawood 15
Padova 15
Palermo 15
Denver 14
Hong Kong 14
Jinan 14
Liberty Lake 14
Mexico City 14
Munich 14
Turku 14
Amsterdam 13
Ann Arbor 13
Curitiba 13
Haiphong 13
Johannesburg 13
Menlo Park 13
Zhengzhou 13
Lappeenranta 12
Monza 12
Porto Alegre 12
Pune 12
Brasília 11
Den Haag 11
Florence 11
Helsinki 11
Totale 13.770
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Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 568
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 184
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 181
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 173
Anti-mog associated encephalitis: when steroid therapy is not enough 168
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 164
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 151
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 147
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 144
Hypoglossal nerve paralysis in a child after a dental procedure 141
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature 139
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 138
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 138
Megalencephaly Capillary Malformation Syndrome 136
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 132
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 130
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 130
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 128
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 125
GLYCOSYLATION DEFECTS AND EPILEPSY 122
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 121
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 121
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 120
A survey on Italian Patients with PMM2-CDG 117
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 117
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 117
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 117
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 115
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 115
COG6-CDG: Novel variants and novel malformation 114
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 113
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 111
Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study 111
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 110
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 110
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 109
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 109
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 2.678 108
Adrenoleukodystrophy. Validity of CT in the diagnosis. 107
EEG features in patients with mucopolysaccharidoses III at different disease stages. 107
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 106
Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients 105
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 104
Quantitative analysis of upright standing in adults with late-onset Pompe disease 104
alterazioni dei neurotrasmettitori 103
Alterazioni cerebellari nelle malattie metaboliche. 102
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 102
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 101
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 101
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 100
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 100
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 100
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 99
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 99
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 99
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region 98
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 97
Imaging findings of mucopolysaccharidoses: a pictorial review. 97
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 96
Multiple sclerosis with onset at 35 months of age 95
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 95
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 95
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 94
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 94
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 93
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 92
La sindrome di Rett 92
Metabolic malformation syndromes. Beyond the Zellweger syndrome 90
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 90
Mucopolisaccaridosi IIID, caratterisithce cliniche ed evoluzione naturale in tre pazienti 90
Mucopolysaccharidoses: early diagnostic signs in infants and children 90
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 89
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 88
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 88
Rett syndrome: Photographic evidence of rapid regression 87
Hyperkinetic movement disorders in congenital disorders of glycosylation 87
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 86
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 86
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic 85
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 85
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 85
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 85
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 85
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 84
Anomalie cerebellari nelle malattie metaboliche 84
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 84
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 83
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 83
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 83
Effects of enzyme replacement therapy on standing posture in patients with Pompe disease 83
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 82
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 82
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 82
Primary headache in childhood associated with psychiatric disturbances: An update 82
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. 81
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 81
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 80
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis 80
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 80
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 79
Totale 11.060
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Categoria #
all - tutte 75.762
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 75.762
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021826 0 0 0 0 0 24 200 22 154 35 305 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
2025/20266.727 582 320 1.836 739 1.677 1.573 0 0 0 0 0 0
Totale 21.889