IRIS
FIUMARA, Agata
 Distribuzione geografica
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Continente #
NA - Nord America 4369
EU - Europa 3417
AS - Asia 961
AF - Africa 59
Continente sconosciuto - Info sul continente non disponibili 13
SA - Sud America 11
OC - Oceania 1
Totale 8831
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Nazione #
US - Stati Uniti d'America 4061
IE - Irlanda 1133
UA - Ucraina 921
CN - Cina 851
IT - Italia 707
CA - Canada 306
RU - Federazione Russa 247
SE - Svezia 115
DE - Germania 70
FR - Francia 60
SN - Senegal 57
VN - Vietnam 43
CH - Svizzera 40
GB - Regno Unito 36
GR - Grecia 20
IN - India 20
UZ - Uzbekistan 17
AT - Austria 15
EU - Europa 13
NL - Olanda 13
LB - Libano 10
PL - Polonia 10
BR - Brasile 9
CZ - Repubblica Ceca 9
IR - Iran 8
BE - Belgio 7
SG - Singapore 5
RO - Romania 4
NO - Norvegia 3
BG - Bulgaria 2
CR - Costa Rica 2
KH - Cambogia 2
TR - Turchia 2
AR - Argentina 1
AU - Australia 1
BN - Brunei Darussalam 1
CL - Cile 1
DK - Danimarca 1
EG - Egitto 1
FI - Finlandia 1
HU - Ungheria 1
IS - Islanda 1
MA - Marocco 1
ME - Montenegro 1
NP - Nepal 1
PK - Pakistan 1
Totale 8831
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Città #
Dublin 1110
Jacksonville 1048
Chandler 908
Nanjing 286
Lawrence 284
Cambridge 282
Andover 268
Toronto 239
Des Moines 176
Catania 150
San Mateo 148
Nanchang 102
Boardman 90
Shenyang 90
Wilmington 90
Hebei 75
Houston 72
Ottawa 64
Saint Petersburg 64
Jiaxing 61
Changsha 60
Dakar 57
Tianjin 47
Dong Ket 35
Augusta 33
Bremen 33
Beijing 26
Piedimonte Etneo 25
Ashburn 24
Moscow 24
Hangzhou 22
Norwalk 21
Rome 21
Kunming 17
Milan 16
Civitavecchia 15
Leawood 15
Jinan 14
Liberty Lake 14
Ann Arbor 13
Menlo Park 13
Den Haag 12
Zhengzhou 12
Padova 11
Pedara 11
Dallas 10
Monza 10
Oakland 10
Falls Church 9
Frankfurt Am Main 9
Grafing 9
Messina 9
Gravina di Catania 8
Hanoi 8
Riposto 8
Fairfield 7
Fremont 7
San Giovanni La Punta 7
Lago 6
Napoli 6
Redmond 6
Ardabil 5
Bologna 5
Monmouth Junction 5
Mumbai 5
Scicli 5
Adrano 4
Barcellona Pozzo di Gotto 4
Capannori 4
Casalnuovo Di Napoli 4
Lanzhou 4
Ludwigshafen 4
Naples 4
Paris 4
Redwood City 4
Rio Saliceto 4
Aci Catena 3
Arconate 3
Brussels 3
Campofelice di Roccella 3
Charlestown 3
Fuzhou 3
Guangzhou 3
Horia 3
Lipari 3
Pisa 3
Pozzo Di Gotto 3
San Francisco 3
Scordia 3
Taizhou 3
Vienna 3
Aci Sant'antonio 2
Antwerp 2
Asse 2
Brescia 2
Changchun 2
Dudley 2
Giardini-Naxos 2
Giarre 2
Kiev 2
Totale 6455
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Nome #
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 152
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 76
EEG features in patients with mucopolysaccharidoses III at different disease stages. 63
La sindrome di Rett 57
PARTIAL LIPODYSTROPHY - IMMUNOLOGICAL STUDIES IN A SICILIAN GIRL 56
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 55
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 53
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth? 52
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 52
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 51
GLYCOSYLATION DEFECTS AND EPILEPSY 50
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 50
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 49
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 49
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 49
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 49
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 49
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 49
Imaging findings of mucopolysaccharidoses: a pictorial review. 48
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 47
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 47
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 47
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 47
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 46
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 46
Disturbi del metabolismo delle purine e pirimidine 46
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 46
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 46
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome) 46
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 45
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 45
Epilepsy in patients with Angelman syndrome 45
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 45
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR 45
Metabolic malformation syndromes. Beyond the Zellweger syndrome 44
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 44
Rett syndrome: Photographic evidence of rapid regression 44
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts. 44
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 43
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 43
Quantitative analysis of upright standing in adults with late-onset Pompe disease 43
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach 43
Hypoglossal nerve paralysis in a child after a dental procedure 43
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome) 43
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 42
Multiple sclerosis with onset at 35 months of age 42
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 42
Sanfilippo syndrome type D in two adolescent sisters. 42
Mucopolysaccharidoses: early diagnostic signs in infants and children 42
First-trimester prenatal diagnosis of Canavan disease. 41
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 41
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 41
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. 41
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 41
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 41
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 40
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 40
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 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
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 39
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. 39
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333 39
Adrenoleukodystrophy. Validity of CT in the diagnosis. 39
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 39
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. 39
Total and single species of uronic acid-bearing glycosaminoglycans in urine of newborns of 2-3days of age for early diagnosis application 39
Disordini congeniti della glicosilazione 39
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 39
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 38
Coxite brucellare in età pediatrica 38
Evidence for genetic heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type 1 (CDG1) 38
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 38
Progressive Cavitating Leukoencephalopathy: A Novel Childhood Disease. Ann Neurol 2005 , Dec , 58(6):929-938, IF 8.097 38
Effects of carnitine and acetylcarnitine isomers on mitochondrial respiration. 38
Sindrome di Rett. Natura genetica e ricerca scientifica 38
Effetti della terapia enzimatica sulla postura eretta in adulti con disfunzione muscolare causata dalla malattia di Pompe 38
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 38
Carbohydrate-deficient glycoprotein syndromes: the Italian experience. 38
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 38
Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus 38
Hyperkinetic movement disorders in congenital disorders of glycosylation 38
ANTI-MOG ASSOCIATED ENCEPHALITIS: WHEN STEROID THERAPY IS NOT ENOUGH 38
The world of ASD biomarkers: look for the needle in the haystack and discover new interesting indications for future researches 37
A survey on Italian Patients with PMM2-CDG 37
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II 37
Farber disease with prolonged survival. 36
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). 36
Basi metaboliche di sindromi dismorfiche, monogeniche o multifattoriali. Le Sindromi CDG 36
Anomalie cerebellari nelle malattie metaboliche 36
Standing postural control in adults with muscular dysfunction caused by Glycogenosis type II. 36
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 36
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 36
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa 36
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1) 35
Late-onset globoid cell leukodystrophy. Report on seven new patients. 35
Temporal Lobe Epilepsy in Gaucher Disease type 3: a case report 35
Glicogenosi 35
Le malattie perossisomiali 35
Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease 35
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 35
Totale 4375
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Categoria #
all - tutte 16808
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 16808
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201817 0000 00 00 1943
2018/2019469 8421 89252 327 8191334
2019/20201632 60710413420 13313 17023 1591417184
2020/20211733 3316921132 43125 20922 1603531888
2021/20222112 2462911976 3069 29865 2132363503
2022/20233007 32210531249 312532 29573 854000
Totale 9206