IRIS
FIUMARA, Agata
 Distribuzione geografica
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Continente #
NA - Nord America 9.730
EU - Europa 5.134
AS - Asia 4.599
SA - Sud America 1.042
AF - Africa 402
Continente sconosciuto - Info sul continente non disponibili 14
OC - Oceania 6
Totale 20.927
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Nazione #
US - Stati Uniti d'America 9.348
SG - Singapore 2.697
IT - Italia 1.360
CN - Cina 1.310
RU - Federazione Russa 1.182
IE - Irlanda 996
UA - Ucraina 898
BR - Brasile 897
CA - Canada 332
CI - Costa d'Avorio 240
VN - Vietnam 239
SE - Svezia 129
GB - Regno Unito 106
DE - Germania 97
IN - India 89
FR - Francia 68
NL - Olanda 63
AR - Argentina 59
SN - Senegal 57
CH - Svizzera 43
FI - Finlandia 37
MX - Messico 32
BD - Bangladesh 30
JP - Giappone 27
ZA - Sudafrica 27
EC - Ecuador 26
PL - Polonia 26
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
UY - Uruguay 10
CL - Cile 9
DZ - Algeria 9
EG - Egitto 9
KE - Kenya 9
TN - Tunisia 9
BE - Belgio 8
AE - Emirati Arabi Uniti 7
LT - Lituania 7
SA - Arabia Saudita 7
AL - Albania 5
BG - Bulgaria 5
KZ - Kazakistan 5
NP - Nepal 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 20.920
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Città #
Dallas 1.593
Singapore 1.398
Santa Clara 1.091
Jacksonville 1.007
Dublin 973
Chandler 875
Moscow 505
Chicago 474
Boardman 430
Ashburn 295
Nanjing 277
Lawrence 276
Cambridge 274
Andover 260
Abidjan 240
Toronto 236
Catania 195
Los Angeles 180
Des Moines 170
Beijing 165
San Mateo 143
Hefei 110
Nanchang 94
Shenyang 91
São Paulo 90
Wilmington 89
Houston 86
Ho Chi Minh City 77
Civitanova Marche 74
Hebei 73
Buffalo 66
Changsha 62
Saint Petersburg 62
Rome 60
Jiaxing 59
Milan 58
Dakar 57
Ottawa 57
Hanoi 55
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
Boston 20
London 20
Norwalk 20
San Francisco 20
Belo Horizonte 19
Redondo Beach 19
Abuja 18
Bologna 18
Messina 18
Mumbai 18
Atlanta 17
Phoenix 17
Venice 16
Civitavecchia 15
Kunming 15
Leawood 15
Padova 15
Warsaw 15
Curitiba 14
Denver 14
Hong Kong 14
Jinan 14
Liberty Lake 14
Munich 14
Turku 14
Amsterdam 13
Ann Arbor 13
Johannesburg 13
Menlo Park 13
Mexico City 13
Palermo 13
Zhengzhou 13
Lappeenranta 12
Monza 12
Porto Alegre 12
Pune 12
Brasília 11
Den Haag 11
Florence 11
Helsinki 11
Manchester 11
Pedara 11
Totale 13.558
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Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 567
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 180
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 176
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 170
Anti-mog associated encephalitis: when steroid therapy is not enough 164
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 160
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 148
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 142
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 139
Hypoglossal nerve paralysis in a child after a dental procedure 135
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 135
Megalencephaly Capillary Malformation Syndrome 134
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 133
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature 133
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 128
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 128
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 127
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 125
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 121
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 120
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 117
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 117
GLYCOSYLATION DEFECTS AND EPILEPSY 116
A survey on Italian Patients with PMM2-CDG 115
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 115
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 113
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 113
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 112
COG6-CDG: Novel variants and novel malformation 111
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 110
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 110
Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study 110
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 107
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 107
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 107
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 107
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 2.678 106
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 106
EEG features in patients with mucopolysaccharidoses III at different disease stages. 105
Adrenoleukodystrophy. Validity of CT in the diagnosis. 104
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 103
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 102
Quantitative analysis of upright standing in adults with late-onset Pompe disease 101
Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients 101
alterazioni dei neurotrasmettitori 100
Alterazioni cerebellari nelle malattie metaboliche. 99
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 98
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 98
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 98
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 98
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 98
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 97
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 97
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 96
Imaging findings of mucopolysaccharidoses: a pictorial review. 96
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 96
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 96
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 94
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region 94
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 93
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 93
Multiple sclerosis with onset at 35 months of age 92
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 92
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 91
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 91
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 90
La sindrome di Rett 90
Metabolic malformation syndromes. Beyond the Zellweger syndrome 88
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 88
Mucopolysaccharidoses: early diagnostic signs in infants and children 88
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 87
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 87
Mucopolisaccaridosi IIID, caratterisithce cliniche ed evoluzione naturale in tre pazienti 87
Hyperkinetic movement disorders in congenital disorders of glycosylation 87
Rett syndrome: Photographic evidence of rapid regression 85
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 85
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 84
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 84
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 83
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 83
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 83
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 83
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic 82
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 82
Anomalie cerebellari nelle malattie metaboliche 82
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 82
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 81
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 81
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 81
Effects of enzyme replacement therapy on standing posture in patients with Pompe disease 81
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 81
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 80
Primary headache in childhood associated with psychiatric disturbances: An update 80
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 79
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. 79
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 79
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 79
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 78
Temporal lobe epilepsy in gaucher disease type 3: A case report 78
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 78
Totale 10.792
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Categoria #
all - tutte 74.823
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 74.823
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021828 0 0 0 0 0 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
2025/20266.111 583 323 1.843 748 1.686 928 0 0 0 0 0 0
Totale 21.312