FIUMARA, Agata
 Distribuzione geografica
Continente #
NA - Nord America 4.826
EU - Europa 3.491
AS - Asia 989
AF - Africa 224
Continente sconosciuto - Info sul continente non disponibili 13
SA - Sud America 12
OC - Oceania 5
Totale 9.560
Nazione #
US - Stati Uniti d'America 4.520
IE - Irlanda 1.012
UA - Ucraina 903
IT - Italia 892
CN - Cina 854
CA - Canada 304
RU - Federazione Russa 244
CI - Costa d'Avorio 146
SE - Svezia 114
DE - Germania 75
FR - Francia 64
SN - Senegal 56
GB - Regno Unito 45
VN - Vietnam 43
CH - Svizzera 42
IN - India 31
GR - Grecia 23
SG - Singapore 21
NG - Nigeria 18
AT - Austria 15
NL - Olanda 15
UZ - Uzbekistan 15
EU - Europa 13
LB - Libano 10
PL - Polonia 10
BR - Brasile 9
CZ - Repubblica Ceca 9
BE - Belgio 8
IR - Iran 8
AU - Australia 4
FI - Finlandia 4
RO - Romania 4
NO - Norvegia 3
BG - Bulgaria 2
CL - Cile 2
CR - Costa Rica 2
KH - Cambogia 2
MA - Marocco 2
TR - Turchia 2
AL - Albania 1
AR - Argentina 1
BN - Brunei Darussalam 1
DK - Danimarca 1
DZ - Algeria 1
EG - Egitto 1
ES - Italia 1
HU - Ungheria 1
IS - Islanda 1
LI - Liechtenstein 1
ME - Montenegro 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PK - Pakistan 1
Totale 9.560
Città #
Jacksonville 1.027
Dublin 989
Chandler 893
Nanjing 283
Lawrence 280
Cambridge 278
Andover 264
Toronto 234
Des Moines 171
Catania 169
Boardman 154
Abidjan 146
San Mateo 145
Ashburn 111
Nanchang 99
Shenyang 90
Wilmington 90
Hebei 73
Houston 72
Saint Petersburg 63
Ottawa 62
Changsha 60
Jiaxing 59
Dakar 56
Tianjin 45
Rome 40
Augusta 36
Dong Ket 35
Bremen 33
Milan 25
Piedimonte Etneo 25
Moscow 24
Beijing 23
Hangzhou 22
Norwalk 20
Abuja 18
Seattle 18
Kunming 16
Civitavecchia 15
Leawood 15
Jinan 14
Liberty Lake 14
Messina 14
Ann Arbor 13
Menlo Park 13
Padova 13
Den Haag 12
Pune 12
Zhengzhou 12
Pedara 11
Dallas 10
Monza 10
Naples 10
Oakland 10
Priolo Gargallo 10
Falls Church 9
Frankfurt Am Main 9
Grafing 9
Gravina di Catania 8
Hanoi 8
Riposto 8
Edinburgh 7
Fairfield 7
Florence 7
San Giovanni La Punta 7
Bologna 6
Fremont 6
Lago 6
Napoli 6
Palermo 6
Redmond 6
Ardabil 5
Lipari 5
Monmouth Junction 5
Mumbai 5
New York 5
Scicli 5
Tappahannock 5
Washington 5
Aci Catena 4
Adrano 4
Barcellona Pozzo di Gotto 4
Brussels 4
Capannori 4
Casalnuovo Di Napoli 4
Lanzhou 4
Ludwigshafen 4
Montreal 4
Paris 4
Redwood City 4
Rio Saliceto 4
Arconate 3
Berlin 3
Campofelice di Roccella 3
Castel San Pietro Terme 3
Charlestown 3
Domusnovas Canales 3
Fuzhou 3
Guangzhou 3
Horia 3
Totale 6.686
Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 241
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 84
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 72
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 66
EEG features in patients with mucopolysaccharidoses III at different disease stages. 65
Anti-mog associated encephalitis: when steroid therapy is not enough 65
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 64
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 63
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 62
La sindrome di Rett 60
PARTIAL LIPODYSTROPHY - IMMUNOLOGICAL STUDIES IN A SICILIAN GIRL 59
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 59
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 58
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 57
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 57
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 55
GLYCOSYLATION DEFECTS AND EPILEPSY 55
Imaging findings of mucopolysaccharidoses: a pictorial review. 54
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 54
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 53
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 53
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 53
Multiple sclerosis with onset at 35 months of age 52
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 51
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 51
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 50
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 50
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 50
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 49
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 49
Rett syndrome: Photographic evidence of rapid regression 48
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 48
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 48
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 48
Hypoglossal nerve paralysis in a child after a dental procedure 48
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 48
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 47
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 47
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 47
Quantitative analysis of upright standing in adults with late-onset Pompe disease 47
Metabolic malformation syndromes. Beyond the Zellweger syndrome 46
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 46
Epilepsy in patients with Angelman syndrome 46
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 46
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 46
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 46
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 45
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 45
Adrenoleukodystrophy. Validity of CT in the diagnosis. 45
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts. 45
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. 45
Sindrome di Rett. Natura genetica e ricerca scientifica 45
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 45
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 44
Sanfilippo syndrome type D in two adolescent sisters. 44
Disturbi del metabolismo delle purine e pirimidine 44
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 43
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 43
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 43
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 43
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 43
Mucopolysaccharidoses: early diagnostic signs in infants and children 43
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 42
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 42
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 42
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 42
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 42
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 42
Hyperkinetic movement disorders in congenital disorders of glycosylation 42
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 41
First-trimester prenatal diagnosis of Canavan disease. 41
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 41
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 41
Total and single species of uronic acid-bearing glycosaminoglycans in urine of newborns of 2-3days of age for early diagnosis application 41
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 41
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 41
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 41
A survey on Italian Patients with PMM2-CDG 41
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype 41
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. 40
Effects of carnitine and acetylcarnitine isomers on mitochondrial respiration. 40
Disordini congeniti della glicosilazione 40
Basi metaboliche di sindromi dismorfiche, monogeniche o multifattoriali. Le Sindromi CDG 40
Temporal lobe epilepsy in gaucher disease type 3: A case report 40
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 40
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 40
Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood Pediatr Med Chir. 1994 Mar-Apr;16(2):125-8. Review. 40
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 40
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 40
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 40
Coxite brucellare in età pediatrica 39
Association study of autistic disorder and chromosome 16p. Am J Med Genet 2003, 119A (2):242-246. IF 2.334 39
Progressive Cavitating Leukoencephalopathy: A Novel Childhood Disease. Ann Neurol 2005 , Dec , 58(6):929-938, IF 8.097 39
Carbohydrate-deficient glycoprotein syndromes: the Italian experience 39
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 39
Farber disease with prolonged survival. 38
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II 38
Eye-tracking evaluation of ocular motility in Pompe disease. 38
Megalencephaly Capillary Malformation Syndrome 38
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion 38
Totale 4.897
Categoria #
all - tutte 32.231
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 32.231


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201966 0 0 0 0 0 0 0 0 0 19 13 34
2019/20201.602 597 104 131 20 130 13 167 23 156 13 166 82
2020/20211.707 33 166 207 32 424 25 205 22 157 35 313 88
2021/20222.081 242 287 19 76 301 9 294 63 210 23 62 495
2022/20233.111 318 105 30 247 307 520 29 523 805 47 107 73
2023/2024718 80 146 65 93 45 168 13 72 15 21 0 0
Totale 9.934