IRIS
FIUMARA, Agata
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 9.274
EU - Europa 4.115
AS - Asia 3.407
SA - Sud America 966
AF - Africa 384
Continente sconosciuto - Info sul continente non disponibili 14
OC - Oceania 6
Totale 18.166
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 8.912
SG - Singapore 1.678
IT - Italia 1.313
CN - Cina 1.275
IE - Irlanda 996
UA - Ucraina 898
BR - Brasile 840
CA - Canada 320
RU - Federazione Russa 257
CI - Costa d'Avorio 240
VN - Vietnam 153
SE - Svezia 124
DE - Germania 96
GB - Regno Unito 92
IN - India 79
FR - Francia 68
SN - Senegal 57
NL - Olanda 52
AR - Argentina 47
CH - Svizzera 43
FI - Finlandia 37
EC - Ecuador 25
KR - Corea 25
MX - Messico 24
GR - Grecia 23
AT - Austria 22
BD - Bangladesh 21
PL - Polonia 21
UZ - Uzbekistan 21
JP - Giappone 20
ZA - Sudafrica 20
IQ - Iraq 18
NG - Nigeria 18
ID - Indonesia 16
MA - Marocco 16
ES - Italia 14
TR - Turchia 14
CO - Colombia 13
CZ - Repubblica Ceca 13
EU - Europa 13
HK - Hong Kong 13
IR - Iran 11
PY - Paraguay 11
VE - Venezuela 11
LB - Libano 10
PK - Pakistan 10
TN - Tunisia 9
BE - Belgio 8
CL - Cile 8
UY - Uruguay 8
AE - Emirati Arabi Uniti 7
DZ - Algeria 7
EG - Egitto 7
SA - Arabia Saudita 7
KE - Kenya 6
BG - Bulgaria 5
LT - Lituania 5
NP - Nepal 5
AL - Albania 4
AU - Australia 4
CR - Costa Rica 4
HN - Honduras 4
KZ - Kazakistan 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
ET - Etiopia 2
JO - Giordania 2
KH - Cambogia 2
OM - Oman 2
BB - Barbados 1
BH - Bahrain 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
MV - Maldive 1
MY - Malesia 1
NE - Niger 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
PA - Panama 1
PS - Palestinian Territory 1
PT - Portogallo 1
PW - Palau 1
Totale 18.162
Salva come PNG Salva come JPEG
Città #
Dallas 1.587
Santa Clara 1.087
Jacksonville 1.007
Dublin 973
Singapore 946
Chandler 875
Chicago 472
Boardman 430
Nanjing 277
Lawrence 276
Cambridge 274
Andover 260
Abidjan 240
Toronto 234
Ashburn 197
Catania 193
Des Moines 169
Beijing 156
San Mateo 143
Hefei 110
Los Angeles 96
Nanchang 94
Shenyang 91
Wilmington 89
São Paulo 80
Houston 77
Civitanova Marche 74
Hebei 73
Changsha 62
Saint Petersburg 62
Jiaxing 59
Rome 58
Dakar 57
Ottawa 57
Milan 56
Ho Chi Minh City 46
Tianjin 45
Augusta 36
Council Bluffs 36
Dong Ket 35
Bremen 33
Rio de Janeiro 32
The Dalles 32
New York 31
Hanoi 28
Columbus 27
Brooklyn 25
Piedimonte Etneo 25
Seoul 25
Moscow 24
Hangzhou 23
Seattle 23
Kochi 21
Norwalk 20
Tokyo 20
Belo Horizonte 19
San Francisco 19
Abuja 18
Messina 18
Naples 18
Bologna 17
London 17
Stockholm 17
Venice 16
Boston 15
Civitavecchia 15
Kunming 15
Leawood 15
Padova 15
Phoenix 15
Jinan 14
Liberty Lake 14
Mumbai 14
Munich 14
Turku 14
Ann Arbor 13
Hong Kong 13
Menlo Park 13
Montreal 13
Palermo 13
Zhengzhou 13
Lappeenranta 12
Monza 12
Porto Alegre 12
Pune 12
Atlanta 11
Curitiba 11
Den Haag 11
Florence 11
Helsinki 11
Pedara 11
Brasília 10
Campinas 10
Dhaka 10
Fortaleza 10
Mexico City 10
Oakland 10
Priolo Gargallo 10
Redondo Beach 10
Warsaw 10
Totale 12.179
Salva come PNG Salva come JPEG
Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 520
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 147
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 139
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 136
Anti-mog associated encephalitis: when steroid therapy is not enough 133
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 132
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 122
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 118
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 118
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 116
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 112
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 110
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 106
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 106
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature 106
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 104
Hypoglossal nerve paralysis in a child after a dental procedure 102
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 102
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 101
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 100
Megalencephaly Capillary Malformation Syndrome 100
EEG features in patients with mucopolysaccharidoses III at different disease stages. 99
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 98
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 98
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 97
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 96
GLYCOSYLATION DEFECTS AND EPILEPSY 95
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 95
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 91
Quantitative analysis of upright standing in adults with late-onset Pompe disease 90
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 90
Imaging findings of mucopolysaccharidoses: a pictorial review. 89
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 89
COG6-CDG: Novel variants and novel malformation 89
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 88
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 88
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 88
Multiple sclerosis with onset at 35 months of age 87
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 87
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 87
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 86
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 85
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 85
A survey on Italian Patients with PMM2-CDG 85
Metabolic malformation syndromes. Beyond the Zellweger syndrome 84
La sindrome di Rett 84
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 83
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 82
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 82
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 82
Mucopolysaccharidoses: early diagnostic signs in infants and children 82
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 81
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 81
Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients 81
Rett syndrome: Photographic evidence of rapid regression 80
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 80
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 80
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 80
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 80
Hyperkinetic movement disorders in congenital disorders of glycosylation 80
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 80
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 80
Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study 80
Adrenoleukodystrophy. Validity of CT in the diagnosis. 79
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 79
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 79
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 78
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 77
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 77
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 77
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 77
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 77
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 76
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 76
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 76
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 76
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 76
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 76
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 76
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 75
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 75
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 74
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 74
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 74
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 74
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 74
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 74
alterazioni dei neurotrasmettitori 74
Alterazioni cerebellari nelle malattie metaboliche. 74
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 74
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts. 73
Effects of enzyme replacement therapy on standing posture in patients with Pompe disease 73
Eye-tracking evaluation of ocular motility in Pompe disease. 73
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 72
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. 71
Disturbi del metabolismo delle purine e pirimidine 71
Sindrome di Rett. Natura genetica e ricerca scientifica 71
Temporal lobe epilepsy in gaucher disease type 3: A case report 71
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 71
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 71
Totale 9.219
Salva come PNG Salva come JPEG
Categoria #
all - tutte 70.286
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 70.286
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.278 0 0 0 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
2025/20263.350 583 323 1.843 601 0 0 0 0 0 0 0 0
Totale 18.551