IRIS
CONCOLINO, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 3.644
NA - Nord America 3.558
SA - Sud America 1.357
EU - Europa 1.346
AF - Africa 102
OC - Oceania 87
Continente sconosciuto - Info sul continente non disponibili 9
Totale 10.103
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Nazione #
US - Stati Uniti d'America 3.353
SG - Singapore 1.619
BR - Brasile 1.012
CN - Cina 740
IT - Italia 692
VN - Vietnam 597
IN - India 321
GB - Regno Unito 175
AR - Argentina 127
SE - Svezia 126
CA - Canada 125
AU - Australia 77
EC - Ecuador 76
ID - Indonesia 75
DE - Germania 71
UA - Ucraina 61
IQ - Iraq 48
MX - Messico 43
BD - Bangladesh 38
TR - Turchia 35
CL - Cile 34
FR - Francia 34
HK - Hong Kong 31
CO - Colombia 30
NL - Olanda 30
RU - Federazione Russa 26
ES - Italia 21
FI - Finlandia 21
PE - Perù 20
PL - Polonia 20
PY - Paraguay 20
TN - Tunisia 18
UY - Uruguay 18
ZA - Sudafrica 18
MA - Marocco 17
EG - Egitto 16
KE - Kenya 16
PK - Pakistan 14
SA - Arabia Saudita 14
VE - Venezuela 14
JP - Giappone 13
CZ - Repubblica Ceca 11
OM - Oman 11
RO - Romania 11
IR - Iran 9
MY - Malesia 8
NZ - Nuova Zelanda 8
TW - Taiwan 8
GT - Guatemala 7
JO - Giordania 7
NP - Nepal 7
BE - Belgio 6
DZ - Algeria 6
HN - Honduras 6
IL - Israele 6
UZ - Uzbekistan 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AE - Emirati Arabi Uniti 5
AZ - Azerbaigian 5
BO - Bolivia 5
BS - Bahamas 5
CH - Svizzera 5
IE - Irlanda 4
JM - Giamaica 4
KZ - Kazakistan 4
NG - Nigeria 4
PT - Portogallo 4
AL - Albania 3
BG - Bulgaria 3
CU - Cuba 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
HR - Croazia 3
KR - Corea 3
KW - Kuwait 3
LB - Libano 3
AM - Armenia 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BY - Bielorussia 2
CR - Costa Rica 2
DK - Danimarca 2
EE - Estonia 2
EU - Europa 2
GR - Grecia 2
LV - Lettonia 2
MT - Malta 2
PA - Panama 2
PH - Filippine 2
PS - Palestinian Territory 2
RS - Serbia 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
AO - Angola 1
AT - Austria 1
BB - Barbados 1
BZ - Belize 1
CI - Costa d'Avorio 1
GY - Guiana 1
Totale 10.092
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Città #
San Jose 646
Singapore 430
Ashburn 296
Santa Clara 256
Chandler 245
Hefei 238
Bengaluru 237
Milan 227
Ho Chi Minh City 225
Lawrence 215
Princeton 215
Dallas 162
Hanoi 108
London 108
Chicago 98
Wilmington 96
Beijing 91
Des Moines 90
São Paulo 89
Ottawa 83
Catanzaro 45
Munich 44
Shanghai 44
Rio de Janeiro 37
Redwood City 36
Los Angeles 32
Hong Kong 30
Haiphong 28
Rome 28
Guarulhos 24
Thái Bình 24
Da Nang 23
Biên Hòa 22
Melbourne 22
New York 22
Redmond 22
Boardman 21
Norwalk 21
Guayaquil 20
Quito 19
Curitiba 18
Santiago 18
Guangzhou 17
Lima 17
Porto Alegre 17
Belo Horizonte 16
Catania 16
Jakarta 16
Nairobi 16
Brooklyn 14
Helsinki 14
Salvador 14
Brasília 13
Buenos Aires 13
Manaus 13
Ninh Bình 13
Perth 13
Phoenix 13
Chennai 12
Denver 12
Naples 12
Pune 12
San Francisco 12
Sydney 12
Warsaw 12
Asunción 11
Boston 11
Montevideo 11
Hyderabad 10
Manchester 10
Montreal 10
Bogotá 9
Boydton 9
Hải Dương 9
Orem 9
Palermo 9
Salt Lake City 9
São José 9
Thái Nguyên 9
Tokyo 9
Zhengzhou 9
Baghdad 8
Bathurst 8
Brisbane 8
Columbus 8
Council Bluffs 8
Dhaka 8
Lahore 8
Lấp Vò 8
Padova 8
Riobamba 8
San Nicola Manfredi 8
Sumaré 8
Verona 8
Amman 7
Amsterdam 7
Atlanta 7
Campinas 7
Caracas 7
Cuenca 7
Totale 5.373
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Nome #
Management of croup in children 307
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome 108
Anderson-Fabry disease in children: The importance of early diagnosis 102
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS 88
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. 81
Early detection of podiatric anomalies in children with Down syndrome. (IF 2.073) 77
Alport's syndrome 77
Nephrotic syndrome: immunological mechanisms 76
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 75
Cardiac involvement in Lysosomal Storage Diseases 75
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants 75
Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia 75
Redefining the Pulvinar Sign in Fabry Disease. 72
Home treatment using agalsidase alfa among patients with Fabry disease in Italy 72
Monosymptomatic enuresis: the therapeutic weapons 71
Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more 70
Diabete, ipotiroidismo e celiachia nella Sindrome di Down. Descrizione di un caso clinico 68
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 68
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria 68
Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica 66
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128) 66
Cardiac defects in RASopathies: a review of genotype- phenotype correlations 66
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge. 65
Gastrointestinal Symptoms of Patients with Fabry Disease 64
Evolution of congenital hypothyroidism in a cohort of preterm born children 63
Sindrome di Down: correlazione tra grado di malattia in età evolutiva e psicopatologia materna 62
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365) 62
Oxidative stress biomarkers in Fabry disease: is there a room for them? 62
An overview of the main causes of neutropenia in childhood 61
Cardiovascular complications in children with chronic kidney injury 60
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency 59
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report 59
XII Congresso della Sezione Calabrese della Società Italiana di Pediatria, Crotone 22/10/1994 59
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 58
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. 58
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy 58
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs 58
Cardiac malformations in children with congenital hypothyroidism 57
Novel serum biomarkers for infection in paediatric emergency 56
17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence 56
La cardiomiopatia del figlio di madre diabetica 56
Gastrointestinal symptoms of patients with Fabry disease 55
GAPO syndrome associated with vestibular dysfunction and hearing loss 55
Una forma grave di tetrasomia 18p confermata con l’ibridazione in situ 55
Renal involvement in paediatric Fabry disease 55
Profile of idursulfase for the treatment of Hunter syndrome 54
Clericuzio type Poikiloderma with Neutropenia Syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the Phenotype 54
Facing up to limits: a lesson from the Charlie Gard case.(IF 2.623) 54
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders 53
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. 53
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. (IF 3.157) 53
Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria 52
Infective endocarditis in children: state of the art 52
Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study 52
New Strategies for the Treatment of Phenylketonuria (PKU) 52
Trisomia parziale 4q associata ad ipoplasia laringea ed atresia delle coane 52
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report 52
GENETIC SUSCEPTIBILITY TO GASTROINTESTINAL SYMPTOMS IN FABRY DISEASE 51
GASTROINTESTINAL SYMPTOMS AND FABRY DISEASE 51
Epilepsy, electroclinical features, and long-term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene 51
Neurological Involvement in Tetrahydrobiopterin Deficiency 50
Delezioni non contigue del cromosoma 22 associate a traslocazione sbilanciata in un soggetto con segni della sindrome di diGeorge/VCF 50
Congenital hypertrichosis, cardiomegaly and osteochondrodysplasia (Cantù syndrome): a new case with unusual radiological findings. (IF 2.391) 50
Unusual presentation of Henoch-Schönlein purpura 50
Erythematous eruption with linear vesciculation and eosinophilia at birth 49
The heart in Anderson-Fabry disease 49
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 48
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. 48
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy 48
KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review. 47
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease. 47
Partial duplication 8q22.2-q24.3 in a patient with congenital malformations and normal psychomotor development 47
Functional abdominal pain 47
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study 47
Infectious diseases and metabolic emergencies in inborn errors of metabolism 47
Which cystography in the diagnosis and grading of vesicoureteral reflux? 46
MALATTIE GENETICHE: CLASSIFICAZIONE, PRINCIPI DIAGNOSTICI E APPROCCIO CLINICO 46
Valutazione dei livelli ematici di Vitamina B12, acido folico e ferro nella Sindrome di Down 46
Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children? 46
Childhood Neurometabolic Disorders 46
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency 46
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.(IF 3.057) 46
Genetic variants associated with gastrointestinal symptoms in Fabry disease. 46
Newborn with hypertelorism, small palpebral fissures and eyelid ptosis 46
Dilated cardiomyopathy in mucolipidosis type 2 46
Point of care lung ultrasound in preschool children with cystic fibrosis: a case-controlled, prospective, pilot study 45
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study 45
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus 45
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (IF 11.183) 45
Norrbottnian clinical variant of Gaucher disease in Southern Italy. 45
Hyperphenylalaninemia: From Diagnosis to Therapy 45
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years 45
Anderson-Fabry Disease in children. 45
SEVERE EPILEPSY IN A PATIENT WITH PRADER-WILLI-SYNDROME DUE TO INVERSION-DUPLICATION OF CHROMOSOME 15Q11-Q13 - A CLINICAL NEUROPHYSIOLOGICAL, AND MOLECULAR-GENETIC STUDY 45
Werner syndrome: a rare mutation 45
Noninvasive quantitative ultrasound fatty liver evaluation of hepato‑renal index in pediatric patients using 3D‑slicer 44
Kawa-COVID-19 44
RECURRENT ABDOMINAL PAIN AND FABRY DISEASE 44
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. (IF 6.365) 44
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 44
Totale 5.896
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Categoria #
all - tutte 99.541
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 99.541
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202163 0 0 0 0 0 0 0 0 0 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
2025/20264.957 149 508 728 1.526 433 107 440 332 565 169 0 0
Totale 10.427