IRIS
CONCOLINO, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 2.267
AS - Asia 1.531
EU - Europa 1.201
SA - Sud America 140
OC - Oceania 71
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 7
Totale 5.250
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Nazione #
US - Stati Uniti d'America 2.122
SG - Singapore 1.032
IT - Italia 642
CN - Cina 255
GB - Regno Unito 163
SE - Svezia 123
CA - Canada 112
BR - Brasile 74
DE - Germania 66
AU - Australia 65
IN - India 51
UA - Ucraina 48
TR - Turchia 29
FR - Francia 28
IQ - Iraq 26
CL - Cile 20
FI - Finlandia 20
ID - Indonesia 20
NL - Olanda 20
EC - Ecuador 17
PL - Polonia 17
ES - Italia 16
MX - Messico 15
AR - Argentina 14
VN - Vietnam 13
HK - Hong Kong 12
PE - Perù 11
SA - Arabia Saudita 11
CZ - Repubblica Ceca 10
JP - Giappone 10
KE - Kenya 10
IR - Iran 9
OM - Oman 9
RO - Romania 9
RU - Federazione Russa 9
TW - Taiwan 8
BD - Bangladesh 7
EG - Egitto 7
MY - Malesia 7
NP - Nepal 6
PK - Pakistan 6
TN - Tunisia 6
A2 - ???statistics.table.value.countryCode.A2??? 5
BE - Belgio 5
CH - Svizzera 5
GT - Guatemala 5
NZ - Nuova Zelanda 5
AE - Emirati Arabi Uniti 4
BS - Bahamas 4
IE - Irlanda 4
NG - Nigeria 4
PT - Portogallo 4
CU - Cuba 3
HN - Honduras 3
IL - Israele 3
JO - Giordania 3
MA - Marocco 3
DK - Danimarca 2
EE - Estonia 2
EU - Europa 2
GR - Grecia 2
KR - Corea 2
LV - Lettonia 2
PH - Filippine 2
TH - Thailandia 2
VE - Venezuela 2
ZA - Sudafrica 2
AL - Albania 1
AT - Austria 1
BO - Bolivia 1
CO - Colombia 1
CR - Costa Rica 1
DZ - Algeria 1
HR - Croazia 1
JM - Giamaica 1
KZ - Kazakistan 1
MN - Mongolia 1
QA - Qatar 1
RS - Serbia 1
TT - Trinidad e Tobago 1
TV - Tuvalu 1
UZ - Uzbekistan 1
Totale 5.250
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Città #
Singapore 350
Chandler 245
Santa Clara 244
Milan 227
Lawrence 215
Princeton 215
London 107
Wilmington 96
Chicago 95
Des Moines 90
Ottawa 83
Ashburn 52
Shanghai 44
Munich 43
Catanzaro 39
Redwood City 36
Rome 27
Redmond 22
Boardman 21
Melbourne 21
Norwalk 21
Beijing 20
Los Angeles 19
Guangzhou 17
Catania 15
Santiago 15
Helsinki 13
Brooklyn 12
Hong Kong 11
Lima 11
New York 11
Pune 11
Warsaw 11
Nairobi 10
San Francisco 10
São Paulo 10
Denver 9
Palermo 9
Zhengzhou 9
Bathurst 8
Brisbane 8
Hyderabad 8
Padova 8
Phoenix 8
Riobamba 8
San Nicola Manfredi 8
Sydney 8
Verona 8
Columbus 7
Jiaxing 7
Manchester 7
Muscat 7
Pachino 7
Turku 7
Barcelona 6
Boston 6
Montreal 6
Naples 6
Perth 6
Salt Lake City 6
Shenzhen 6
Tokyo 6
Washington 6
West Jordan 6
Wuhan 6
Anaheim 5
Charlotte 5
Chennai 5
Hanoi 5
Jakarta 5
Maidstone 5
Olomouc 5
Quanzhou 5
Rotterdam 5
Rui'an 5
Taipei 5
Toronto 5
Vallefiorita 5
Wenzhou 5
Wuxi 5
Abuja 4
Ann Arbor 4
Atlanta 4
Banjarmasin 4
Bra 4
Brussels 4
Buenos Aires 4
Cairo 4
Canberra 4
Chongqing 4
Elkenroth 4
Guatemala City 4
Lahore 4
Leawood 4
Mountain View 4
Nassau 4
Quito 4
The Dalles 4
Amman 3
Ankara 3
Totale 2.849
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Nome #
Management of croup in children 270
Anderson-Fabry disease in children: The importance of early diagnosis 72
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome 69
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS 67
Nephrotic syndrome: immunological mechanisms 66
Redefining the Pulvinar Sign in Fabry Disease. 57
Monosymptomatic enuresis: the therapeutic weapons 55
Diabete, ipotiroidismo e celiachia nella Sindrome di Down. Descrizione di un caso clinico 54
Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia 54
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge. 53
Alport's syndrome 52
Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more 51
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. 48
Cardiac involvement in Lysosomal Storage Diseases 47
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria 47
Sindrome di Down: correlazione tra grado di malattia in età evolutiva e psicopatologia materna 46
Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica 44
Una forma grave di tetrasomia 18p confermata con l’ibridazione in situ 43
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. (IF 3.157) 42
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 41
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. 41
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency 40
Cardiac malformations in children with congenital hypothyroidism 40
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants 40
Oxidative stress biomarkers in Fabry disease: is there a room for them? 40
Novel serum biomarkers for infection in paediatric emergency 39
Early detection of podiatric anomalies in children with Down syndrome. (IF 2.073) 39
Home treatment using agalsidase alfa among patients with Fabry disease in Italy 39
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report 39
Cardiovascular complications in children with chronic kidney injury 39
An overview of the main causes of neutropenia in childhood 39
17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence 38
MALATTIE GENETICHE: CLASSIFICAZIONE, PRINCIPI DIAGNOSTICI E APPROCCIO CLINICO 37
Renal involvement in paediatric Fabry disease 37
GASTROINTESTINAL SYMPTOMS AND FABRY DISEASE 36
Unusual presentation of Henoch-Schönlein purpura 35
Infective endocarditis in children: state of the art 34
GENETIC SUSCEPTIBILITY TO GASTROINTESTINAL SYMPTOMS IN FABRY DISEASE 34
La cardiomiopatia del figlio di madre diabetica 34
Evolution of congenital hypothyroidism in a cohort of preterm born children 34
Which cystography in the diagnosis and grading of vesicoureteral reflux? 33
Valutazione dei livelli ematici di Vitamina B12, acido folico e ferro nella Sindrome di Down 33
Gastrointestinal Symptoms of Patients with Fabry Disease 33
Dilated cardiomyopathy in mucolipidosis type 2 33
RECURRENT ABDOMINAL PAIN AND FABRY DISEASE 32
Werner syndrome: a rare mutation 32
Cardiac defects in RASopathies: a review of genotype- phenotype correlations 32
Clericuzio type Poikiloderma with Neutropenia Syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the Phenotype 31
Genetic variants associated with gastrointestinal symptoms in Fabry disease. 31
Esiste-il des indications pour la vidéo-chirurgie en oncologie pédiatrique? 30
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report 30
Congenital renal anomalies imaging: a valuable tool for pediatricians 30
Anderson-Fabry Disease in children. 29
Gastrointestinal symptoms of patients with Fabry disease 29
Werner syndrome: a rare mutation 29
Laparoscopic management of the non-palpable testis: the evidence-based medicine (EBM) 28
Centric fission of chromosome 9 in a boy with trisomy 9p 28
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis 28
New Strategies for the Treatment of Phenylketonuria (PKU) 28
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 28
Enzyme replacement therapy and renal function in 201 patients with Fabry disease. 27
High seroprevalence of Helicobacter pylori infection in non-institutionalised children with mental retardation 27
UNO’s (unbidentified neurofibromatosis object) e neurofibromatosi tipo 1 (NF1) : nuovo criterio maggiore di diagnosi 27
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128) 27
Profile of idursulfase for the treatment of Hunter syndrome 27
Delezioni non contigue del cromosoma 22 associate a traslocazione sbilanciata in un soggetto con segni della sindrome di diGeorge/VCF 27
XII Congresso della Sezione Calabrese della Società Italiana di Pediatria, Crotone 22/10/1994 27
Pediatric urolithiasis 27
Fabry disease and kidney involvement: starting from childhood to understand the future 27
Kawa-COVID-19 26
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study 26
Genetics and Gene Therapy in Hunter Disease 26
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365) 26
Follow-up neuropsichiatrico in soggetti con sindrome di Down 26
Epilepsy, electroclinical features, and long-term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene 26
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease 25
Ipofosfatasia di tipo letale: una diagnosi radiografica confermata attraverso uno studio familiare 25
Clinical course of a pediatric series of multicystic dysplastic kidney 25
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy 25
KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review. 24
HLA haplotype and serological markers for celiac disease in Down's syndrome patients: A long term follow-up 24
Utilità di un approccio multidisciplinare per il follow-up della Sindrome di Down 24
Trisomia parziale 4q associata ad ipoplasia laringea ed atresia delle coane 24
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. 24
Sindrome di Klippel Feil : una sindrome a notevole eterogeneità clini ca e genetica 24
Neurological Findings in Anderson-Fabry Disease (Review 23
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. (IF 6.365) 23
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. 23
GAPO syndrome associated with vestibular dysfunction and hearing loss 23
Congenital hypertrichosis, cardiomegaly and osteochondrodysplasia (Cantù syndrome): a new case with unusual radiological findings. (IF 2.391) 23
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs 23
Clinical manifestation of Congenital Ocular Toxoplasmosis 23
Infectious diseases and metabolic emergencies in inborn errors of metabolism 23
Noninvasive quantitative ultrasound fatty liver evaluation of hepato‑renal index in pediatric patients using 3D‑slicer 22
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus 22
Complex behavioural disorder in a patient with ring chromosome 10 (p15; q26) 22
Normali livelli di vitamina B12 ed acido folico in bambini con PKU 22
Childhood Neurometabolic Disorders 22
Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study 22
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy. (IF 5.168) 22
Totale 3.620
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Categoria #
all - tutte 82.781
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 82.781
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021309 25 10 10 48 39 23 25 35 31 27 10 26
2021/2022618 26 16 19 110 48 16 26 114 66 54 119 4
2022/20231.309 448 7 43 73 112 81 46 94 155 89 100 61
2023/2024645 104 93 79 51 34 164 21 14 6 18 35 26
2024/20252.213 367 171 109 65 165 273 26 36 305 287 123 286
2025/2026101 101 0 0 0 0 0 0 0 0 0 0 0
Totale 5.571