IRIS
FIUMARA, Agata
 Distribuzione geografica
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Continente #
NA - Nord America 7.351
EU - Europa 3.937
AS - Asia 2.888
SA - Sud America 625
AF - Africa 277
Continente sconosciuto - Info sul continente non disponibili 14
OC - Oceania 5
Totale 15.097
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Nazione #
US - Stati Uniti d'America 7.017
SG - Singapore 1.622
IT - Italia 1.218
IE - Irlanda 1.000
CN - Cina 999
UA - Ucraina 898
BR - Brasile 575
CA - Canada 309
RU - Federazione Russa 251
CI - Costa d'Avorio 151
SE - Svezia 118
DE - Germania 94
GB - Regno Unito 71
IN - India 71
FR - Francia 67
SN - Senegal 57
VN - Vietnam 54
CH - Svizzera 43
NL - Olanda 40
FI - Finlandia 31
GR - Grecia 23
UZ - Uzbekistan 21
NG - Nigeria 18
IQ - Iraq 16
PL - Polonia 16
AT - Austria 15
BD - Bangladesh 15
EU - Europa 13
MA - Marocco 13
AR - Argentina 12
CZ - Repubblica Ceca 12
KR - Corea 12
MX - Messico 11
TR - Turchia 11
ZA - Sudafrica 11
LB - Libano 10
IR - Iran 9
PK - Pakistan 9
TN - Tunisia 9
VE - Venezuela 9
BE - Belgio 8
EC - Ecuador 8
EG - Egitto 7
HK - Hong Kong 7
CL - Cile 6
ES - Italia 6
CO - Colombia 5
DZ - Algeria 5
NP - Nepal 5
PY - Paraguay 5
UY - Uruguay 5
AL - Albania 4
AU - Australia 4
BG - Bulgaria 4
CR - Costa Rica 4
JP - Giappone 4
KE - Kenya 4
RO - Romania 4
AE - Emirati Arabi Uniti 3
HN - Honduras 3
JM - Giamaica 3
NO - Norvegia 3
SA - Arabia Saudita 3
SK - Slovacchia (Repubblica Slovacca) 3
AZ - Azerbaigian 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
JO - Giordania 2
KH - Cambogia 2
KZ - Kazakistan 2
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
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
PS - Palestinian Territory 1
QA - Qatar 1
RS - Serbia 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 15.097
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Città #
Santa Clara 1.078
Jacksonville 1.011
Dublin 977
Singapore 905
Chandler 879
Chicago 464
Boardman 432
Nanjing 278
Lawrence 277
Cambridge 275
Andover 261
Toronto 232
Catania 192
Des Moines 170
Abidjan 151
San Mateo 143
Ashburn 134
Nanchang 95
Shenyang 91
Wilmington 89
Civitanova Marche 74
Houston 74
Hebei 73
Changsha 62
Saint Petersburg 62
Jiaxing 59
Ottawa 58
Dakar 57
Rome 56
Milan 50
Beijing 49
Tianjin 45
São Paulo 40
Augusta 36
Hefei 36
Dong Ket 35
Bremen 33
The Dalles 32
Los Angeles 30
Council Bluffs 29
Columbus 27
Piedimonte Etneo 25
Moscow 24
Hangzhou 23
Seattle 23
Kochi 21
Rio de Janeiro 21
Norwalk 20
Abuja 18
Belo Horizonte 17
Messina 17
New York 17
Bologna 15
Civitavecchia 15
Kunming 15
Leawood 15
Padova 15
Jinan 14
Liberty Lake 14
Munich 14
San Francisco 14
Turku 14
Ann Arbor 13
Brooklyn 13
Hanoi 13
Menlo Park 13
Zhengzhou 13
Monza 12
Mumbai 12
Naples 12
Pune 12
Seoul 12
Dallas 11
Den Haag 11
Helsinki 11
Pedara 11
Brasília 10
Oakland 10
Palermo 10
Priolo Gargallo 10
Falls Church 9
Frankfurt Am Main 9
London 9
Phoenix 9
Curitiba 8
Dhaka 8
Florence 8
Grafing 8
Gravina di Catania 8
Montreal 8
Riposto 8
Shanghai 8
Campinas 7
Edinburgh 7
Fairfield 7
Fortaleza 7
Hong Kong 7
Paris 7
San Giovanni La Punta 7
Atlanta 6
Totale 9.886
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Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 424
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 127
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 113
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 113
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 110
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 110
Anti-mog associated encephalitis: when steroid therapy is not enough 107
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 104
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 101
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 93
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 92
EEG features in patients with mucopolysaccharidoses III at different disease stages. 91
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 91
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 90
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 89
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 88
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 87
GLYCOSYLATION DEFECTS AND EPILEPSY 86
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 86
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 82
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 82
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 81
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 81
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 81
Hypoglossal nerve paralysis in a child after a dental procedure 80
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 80
La sindrome di Rett 79
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 79
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature 79
Quantitative analysis of upright standing in adults with late-onset Pompe disease 78
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 78
Imaging findings of mucopolysaccharidoses: a pictorial review. 77
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 77
Multiple sclerosis with onset at 35 months of age 76
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 76
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 75
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 74
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 73
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 72
Mucopolysaccharidoses: early diagnostic signs in infants and children 72
COG6-CDG: Novel variants and novel malformation 72
Metabolic malformation syndromes. Beyond the Zellweger syndrome 71
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 71
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 71
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 71
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 71
Megalencephaly Capillary Malformation Syndrome 71
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 70
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 70
Hyperkinetic movement disorders in congenital disorders of glycosylation 70
Rett syndrome: Photographic evidence of rapid regression 69
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 69
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 69
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 68
A survey on Italian Patients with PMM2-CDG 68
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 68
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 68
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 68
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 67
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 67
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 67
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 67
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 67
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 66
Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients 66
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 65
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 65
Sanfilippo syndrome type D in two adolescent sisters. 65
Disturbi del metabolismo delle purine e pirimidine 65
Temporal lobe epilepsy in gaucher disease type 3: A case report 65
Effects of enzyme replacement therapy on standing posture in patients with Pompe disease 65
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 65
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 65
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 65
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 65
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 64
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 64
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 64
Adrenoleukodystrophy. Validity of CT in the diagnosis. 64
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 64
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 64
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts. 64
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 64
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 64
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 63
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 63
Epilepsy in patients with Angelman syndrome 63
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 63
Alterazioni cerebellari nelle malattie metaboliche. 63
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 63
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 62
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. 62
Sindrome di Rett. Natura genetica e ricerca scientifica 62
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 62
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 62
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 61
Eye-tracking evaluation of ocular motility in Pompe disease. 61
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. 60
Effects of carnitine and acetylcarnitine isomers on mitochondrial respiration. 60
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 60
Totale 7.772
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Categoria #
all - tutte 60.386
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 60.386
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.684 30 164 204 32 419 25 202 22 154 35 309 88
2021/20222.060 239 284 19 76 298 9 291 63 207 23 61 490
2022/20233.075 314 102 26 246 304 516 29 518 793 47 107 73
2023/20241.133 80 145 65 91 45 168 13 72 15 40 221 178
2024/20255.008 58 850 353 194 1.069 445 106 256 397 539 347 394
2025/2026236 236 0 0 0 0 0 0 0 0 0 0 0
Totale 15.483