IRIS
FIUMARA, Agata
 Distribuzione geografica
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Continente #
NA - Nord America 10.905
EU - Europa 6.183
AS - Asia 5.591
SA - Sud America 1.160
AF - Africa 557
Continente sconosciuto - Info sul continente non disponibili 15
OC - Oceania 10
Totale 24.421
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Nazione #
US - Stati Uniti d'America 10.471
SG - Singapore 3.073
RU - Federazione Russa 1.703
IT - Italia 1.484
CN - Cina 1.436
IE - Irlanda 994
BR - Brasile 966
UA - Ucraina 899
VN - Vietnam 482
CA - Canada 360
FR - Francia 335
CI - Costa d'Avorio 240
GB - Regno Unito 142
SE - Svezia 136
NG - Nigeria 133
IN - India 120
DE - Germania 109
KR - Corea 95
NL - Olanda 78
AR - Argentina 70
SN - Senegal 58
BD - Bangladesh 56
FI - Finlandia 49
MX - Messico 47
CH - Svizzera 46
PL - Polonia 39
ZA - Sudafrica 36
ES - Italia 35
IQ - Iraq 35
JP - Giappone 35
EC - Ecuador 33
HK - Hong Kong 27
ID - Indonesia 27
TR - Turchia 27
GR - Grecia 25
MA - Marocco 25
AT - Austria 24
UZ - Uzbekistan 24
PK - Pakistan 21
CO - Colombia 19
VE - Venezuela 18
CL - Cile 15
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
NP - Nepal 11
BE - Belgio 10
KZ - Kazakistan 10
LT - Lituania 10
SA - Arabia Saudita 10
AE - Emirati Arabi Uniti 9
JO - Giordania 9
AU - Australia 8
RO - Romania 8
BG - Bulgaria 7
PE - Perù 7
PH - Filippine 7
CR - Costa Rica 6
MY - Malesia 6
AL - Albania 5
HU - Ungheria 5
LV - Lettonia 5
BO - Bolivia 4
BY - Bielorussia 4
DO - Repubblica Dominicana 4
GE - Georgia 4
HN - Honduras 4
JM - Giamaica 4
OM - Oman 4
PS - Palestinian Territory 4
SY - Repubblica araba siriana 4
TH - Thailandia 4
AZ - Azerbaigian 3
ET - Etiopia 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
KH - Cambogia 2
KW - Kuwait 2
MM - Myanmar 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
CG - Congo 1
Totale 24.395
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Città #
Singapore 1.680
Dallas 1.597
Santa Clara 1.098
Jacksonville 1.003
Dublin 971
Chandler 875
San Jose 664
Moscow 660
Chicago 478
Ashburn 473
Boardman 430
Lawrence 275
Nanjing 275
Cambridge 273
Andover 259
Lauterbourg 246
Abidjan 240
Toronto 240
Los Angeles 209
Catania 202
Beijing 173
Des Moines 171
Ho Chi Minh City 156
San Mateo 143
Hefei 110
Hanoi 108
São Paulo 102
Seoul 95
Houston 94
Nanchang 94
Shenyang 90
Wilmington 89
Council Bluffs 82
Civitanova Marche 74
Hebei 73
Abuja 68
Milan 68
Buffalo 67
Rome 65
Changsha 62
Lagos 62
New York 62
Saint Petersburg 62
Jiaxing 59
Dakar 58
Ottawa 56
Tianjin 45
Rio de Janeiro 42
Augusta 38
Brooklyn 36
Dong Ket 35
Tokyo 34
Bremen 33
The Dalles 33
Montreal 29
Orem 29
London 28
Stockholm 28
Atlanta 27
Columbus 27
Seattle 27
Piedimonte Etneo 25
Warsaw 25
Naples 24
Boston 23
Hangzhou 23
Hong Kong 23
Mumbai 22
Phoenix 22
Da Nang 21
Kochi 21
San Francisco 21
Belo Horizonte 20
Bologna 20
Lappeenranta 20
Norwalk 20
Denver 19
Haiphong 19
Redondo Beach 19
Johannesburg 18
Messina 18
Amsterdam 17
Poplar 17
Chennai 16
Kunming 16
Mexico City 16
Palermo 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 15.691
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Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 649
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 210
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 197
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 193
Anti-mog associated encephalitis: when steroid therapy is not enough 190
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 187
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 172
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 172
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 165
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 160
Hypoglossal nerve paralysis in a child after a dental procedure 158
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 158
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature 154
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 153
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 149
Megalencephaly Capillary Malformation Syndrome 149
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 142
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 139
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 139
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 138
GLYCOSYLATION DEFECTS AND EPILEPSY 136
A survey on Italian Patients with PMM2-CDG 135
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 132
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 131
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 131
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 131
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 130
Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study 129
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 128
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 128
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 128
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 127
COG6-CDG: Novel variants and novel malformation 127
Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients 126
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 125
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 123
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 122
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 121
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 120
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 120
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 120
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 117
EEG features in patients with mucopolysaccharidoses III at different disease stages. 117
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 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
Alterazioni cerebellari nelle malattie metaboliche. 116
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 115
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 115
Adrenoleukodystrophy. Validity of CT in the diagnosis. 114
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 114
Quantitative analysis of upright standing in adults with late-onset Pompe disease 114
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 114
alterazioni dei neurotrasmettitori 113
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 112
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 111
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 110
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region 110
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 110
Mucopolisaccaridosi IIID, caratterisithce cliniche ed evoluzione naturale in tre pazienti 107
Imaging findings of mucopolysaccharidoses: a pictorial review. 106
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 105
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic 104
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 104
Multiple sclerosis with onset at 35 months of age 103
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 103
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 103
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 103
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 102
La sindrome di Rett 100
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 100
Metabolic malformation syndromes. Beyond the Zellweger syndrome 99
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 99
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 99
Primary headache in childhood associated with psychiatric disturbances: An update 99
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 98
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 98
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 97
Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction? 97
Mucopolysaccharidoses: early diagnostic signs in infants and children 97
Hyperkinetic movement disorders in congenital disorders of glycosylation 97
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 95
Effects of enzyme replacement therapy on standing posture in patients with Pompe disease 95
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 95
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 94
Rett syndrome: Photographic evidence of rapid regression 93
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 93
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 93
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 93
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 93
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 92
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 92
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 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
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 90
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 90
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis 90
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 90
New ratio as a useful marker for early diagnosis of proximal urea cycle disorders 90
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 89
Totale 12.442
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Categoria #
all - tutte 81.628
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 81.628
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021426 0 0 0 0 0 0 0 0 0 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
2025/20269.640 582 320 1.836 739 1.677 1.873 1.372 238 522 481 0 0
Totale 24.802