IRIS
FIUMARA, Agata
 Distribuzione geografica
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Continente #
NA - Nord America 7.699
EU - Europa 4.020
AS - Asia 3.128
SA - Sud America 709
AF - Africa 283
Continente sconosciuto - Info sul continente non disponibili 14
OC - Oceania 6
Totale 15.859
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Nazione #
US - Stati Uniti d'America 7.357
SG - Singapore 1.664
IT - Italia 1.273
CN - Cina 1.137
IE - Irlanda 996
UA - Ucraina 895
BR - Brasile 645
CA - Canada 311
RU - Federazione Russa 251
CI - Costa d'Avorio 151
SE - Svezia 118
DE - Germania 95
GB - Regno Unito 83
IN - India 75
VN - Vietnam 70
FR - Francia 68
SN - Senegal 57
NL - Olanda 47
CH - Svizzera 43
FI - Finlandia 33
GR - Grecia 23
KR - Corea 23
UZ - Uzbekistan 21
AT - Austria 19
NG - Nigeria 18
PL - Polonia 18
AR - Argentina 17
BD - Bangladesh 17
IQ - Iraq 17
MX - Messico 16
ZA - Sudafrica 15
MA - Marocco 14
TR - Turchia 14
EU - Europa 13
CZ - Repubblica Ceca 12
EC - Ecuador 12
JP - Giappone 12
IR - Iran 10
LB - Libano 10
VE - Venezuela 10
PK - Pakistan 9
TN - Tunisia 9
BE - Belgio 8
ES - Italia 8
HK - Hong Kong 8
CL - Cile 7
CO - Colombia 7
EG - Egitto 7
AE - Emirati Arabi Uniti 6
DZ - Algeria 6
SA - Arabia Saudita 6
ID - Indonesia 5
NP - Nepal 5
PY - Paraguay 5
UY - Uruguay 5
AL - Albania 4
AU - Australia 4
BG - Bulgaria 4
CR - Costa Rica 4
KE - Kenya 4
RO - Romania 4
BY - Bielorussia 3
HN - Honduras 3
JM - Giamaica 3
NO - Norvegia 3
SK - Slovacchia (Repubblica Slovacca) 3
AZ - Azerbaigian 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
JO - Giordania 2
KH - Cambogia 2
KZ - Kazakistan 2
LT - Lituania 2
AM - Armenia 1
BH - Bahrain 1
BN - Brunei Darussalam 1
DK - Danimarca 1
GE - Georgia 1
HU - Ungheria 1
IL - Israele 1
IS - Islanda 1
KG - Kirghizistan 1
KW - Kuwait 1
LI - Liechtenstein 1
ME - Montenegro 1
MV - Maldive 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PS - Palestinian Territory 1
PT - Portogallo 1
PW - Palau 1
QA - Qatar 1
RS - Serbia 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 15.859
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Città #
Santa Clara 1.083
Jacksonville 1.007
Dublin 973
Singapore 942
Chandler 875
Chicago 472
Boardman 430
Nanjing 277
Lawrence 276
Cambridge 274
Andover 260
Toronto 232
Catania 192
Dallas 176
Des Moines 169
Ashburn 167
Abidjan 151
San Mateo 143
Beijing 129
Nanchang 94
Hefei 92
Shenyang 91
Wilmington 89
Los Angeles 85
Civitanova Marche 74
Houston 74
Hebei 73
Changsha 62
Saint Petersburg 62
Jiaxing 59
Dakar 57
Ottawa 57
Rome 56
São Paulo 54
Milan 53
Tianjin 45
Augusta 36
Council Bluffs 36
Dong Ket 35
Bremen 33
The Dalles 32
Columbus 27
Rio de Janeiro 26
Brooklyn 25
Piedimonte Etneo 25
Moscow 24
Hangzhou 23
Seattle 23
Seoul 23
Kochi 21
Norwalk 20
New York 19
Abuja 18
Messina 18
San Francisco 18
Belo Horizonte 17
Bologna 17
Venice 16
Civitavecchia 15
Hanoi 15
Kunming 15
Leawood 15
Padova 15
Jinan 14
Liberty Lake 14
London 14
Munich 14
Naples 14
Turku 14
Ann Arbor 13
Menlo Park 13
Mumbai 13
Palermo 13
Phoenix 13
Zhengzhou 13
Monza 12
Pune 12
Tokyo 12
Boston 11
Den Haag 11
Helsinki 11
Ho Chi Minh City 11
Pedara 11
Stockholm 11
Brasília 10
Oakland 10
Priolo Gargallo 10
Atlanta 9
Curitiba 9
Dhaka 9
Falls Church 9
Frankfurt Am Main 9
Montreal 9
Campinas 8
Florence 8
Fortaleza 8
Grafing 8
Gravina di Catania 8
Hong Kong 8
Lappeenranta 8
Totale 10.416
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Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 484
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 131
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 117
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 117
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 115
Anti-mog associated encephalitis: when steroid therapy is not enough 115
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 114
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 109
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 107
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 104
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 98
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 96
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 95
EEG features in patients with mucopolysaccharidoses III at different disease stages. 93
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 93
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 92
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 92
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 92
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 91
GLYCOSYLATION DEFECTS AND EPILEPSY 90
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 89
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature 88
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 87
Multiple sclerosis with onset at 35 months of age 85
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 85
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 85
Hypoglossal nerve paralysis in a child after a dental procedure 85
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 83
Imaging findings of mucopolysaccharidoses: a pictorial review. 82
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 82
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 81
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 81
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 81
La sindrome di Rett 80
Quantitative analysis of upright standing in adults with late-onset Pompe disease 80
Megalencephaly Capillary Malformation Syndrome 79
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 78
Metabolic malformation syndromes. Beyond the Zellweger syndrome 77
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 77
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 76
COG6-CDG: Novel variants and novel malformation 76
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 75
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 75
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 75
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 74
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 74
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 74
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 74
Mucopolysaccharidoses: early diagnostic signs in infants and children 74
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 74
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 74
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 73
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 73
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 73
Hyperkinetic movement disorders in congenital disorders of glycosylation 73
Rett syndrome: Photographic evidence of rapid regression 72
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 72
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 72
A survey on Italian Patients with PMM2-CDG 72
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 71
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 71
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 70
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 70
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 70
Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients 70
Adrenoleukodystrophy. Validity of CT in the diagnosis. 69
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 69
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 69
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 69
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 69
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 69
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 68
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 68
Sanfilippo syndrome type D in two adolescent sisters. 68
Temporal lobe epilepsy in gaucher disease type 3: A case report 68
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 68
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 67
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 67
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 67
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 67
Disturbi del metabolismo delle purine e pirimidine 67
Effects of enzyme replacement therapy on standing posture in patients with Pompe disease 67
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 67
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 66
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 66
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 66
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 66
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 66
Alterazioni cerebellari nelle malattie metaboliche. 66
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 66
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 66
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 66
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts. 65
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. 65
Epilepsy in patients with Angelman syndrome 65
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 65
Sindrome di Rett. Natura genetica e ricerca scientifica 64
alterazioni dei neurotrasmettitori 64
Eye-tracking evaluation of ocular motility in Pompe disease. 64
Carbohydrate-deficient glycoprotein syndromes: the Italian experience 63
Totale 8.239
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Categoria #
all - tutte 64.757
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 64.757
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.481 0 0 203 32 418 24 201 22 154 35 306 86
2021/20222.053 238 283 19 75 297 9 290 63 207 23 61 488
2022/20233.064 313 102 26 244 302 514 29 517 790 47 107 73
2023/20241.129 80 144 65 91 45 168 13 72 15 39 219 178
2024/20254.998 58 848 352 194 1.066 445 106 255 396 538 347 393
2025/20261.043 583 323 137 0 0 0 0 0 0 0 0 0
Totale 16.244