IRIS
CONCOLINO, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 3.094
NA - Nord America 2.605
SA - Sud America 1.323
EU - Europa 1.284
AF - Africa 86
OC - Oceania 81
Continente sconosciuto - Info sul continente non disponibili 9
Totale 8.482
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Nazione #
US - Stati Uniti d'America 2.412
SG - Singapore 1.307
BR - Brasile 994
IT - Italia 656
CN - Cina 621
VN - Vietnam 550
IN - India 306
GB - Regno Unito 174
SE - Svezia 126
AR - Argentina 123
CA - Canada 122
EC - Ecuador 76
AU - Australia 74
ID - Indonesia 72
DE - Germania 67
UA - Ucraina 59
IQ - Iraq 41
MX - Messico 39
CL - Cile 33
TR - Turchia 33
BD - Bangladesh 31
FR - Francia 31
CO - Colombia 28
RU - Federazione Russa 26
NL - Olanda 23
FI - Finlandia 20
PY - Paraguay 20
ES - Italia 19
PE - Perù 19
PL - Polonia 19
TN - Tunisia 17
UY - Uruguay 16
EG - Egitto 15
KE - Kenya 15
ZA - Sudafrica 14
MA - Marocco 13
HK - Hong Kong 12
JP - Giappone 12
VE - Venezuela 12
CZ - Repubblica Ceca 11
PK - Pakistan 11
RO - Romania 11
SA - Arabia Saudita 11
OM - Oman 10
IR - Iran 9
TW - Taiwan 8
GT - Guatemala 7
MY - Malesia 7
BE - Belgio 6
IL - Israele 6
NP - Nepal 6
A2 - ???statistics.table.value.countryCode.A2??? 5
CH - Svizzera 5
HN - Honduras 5
JO - Giordania 5
NZ - Nuova Zelanda 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
BS - Bahamas 4
IE - Irlanda 4
NG - Nigeria 4
PT - Portogallo 4
AL - Albania 3
AZ - Azerbaigian 3
BG - Bulgaria 3
CU - Cuba 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
JM - Giamaica 3
KR - Corea 3
KZ - Kazakistan 3
LB - Libano 3
BH - Bahrain 2
BO - Bolivia 2
CR - Costa Rica 2
DK - Danimarca 2
EE - Estonia 2
EU - Europa 2
GR - Grecia 2
HR - Croazia 2
KW - Kuwait 2
LV - Lettonia 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
AM - Armenia 1
AO - Angola 1
AT - Austria 1
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
ET - Etiopia 1
KG - Kirghizistan 1
LK - Sri Lanka 1
MK - Macedonia 1
MN - Mongolia 1
Totale 8.475
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Città #
Singapore 357
Santa Clara 246
Chandler 245
Hefei 238
Bengaluru 236
Milan 227
Lawrence 215
Princeton 215
Ho Chi Minh City 211
Dallas 162
London 108
Hanoi 98
Chicago 96
Wilmington 96
Des Moines 90
Ashburn 84
Ottawa 83
São Paulo 83
Beijing 80
Shanghai 44
Munich 43
Catanzaro 39
Rio de Janeiro 37
Redwood City 36
Los Angeles 29
Rome 27
Haiphong 26
Guarulhos 24
Thái Bình 24
Redmond 22
Biên Hòa 21
Boardman 21
Melbourne 21
Norwalk 21
Guayaquil 20
Da Nang 19
Quito 19
New York 18
Curitiba 17
Guangzhou 17
Lima 17
Porto Alegre 17
Santiago 17
Belo Horizonte 16
Catania 15
Jakarta 15
Nairobi 15
Brooklyn 14
Salvador 14
Brasília 13
Helsinki 13
Manaus 13
Perth 13
Denver 12
Ninh Bình 12
San Francisco 12
Warsaw 12
Asunción 11
Boston 11
Hong Kong 11
Naples 11
Pune 11
Buenos Aires 10
Hyderabad 10
Montevideo 10
Sydney 10
Bogotá 9
Boydton 9
Hải Dương 9
Manchester 9
Montreal 9
Palermo 9
Phoenix 9
São José 9
Thái Nguyên 9
Zhengzhou 9
Bathurst 8
Brisbane 8
Dhaka 8
Lấp Vò 8
Padova 8
Riobamba 8
San Nicola Manfredi 8
Sumaré 8
Tokyo 8
Verona 8
Atlanta 7
Campinas 7
Caracas 7
Chennai 7
Columbus 7
Cuenca 7
Goiânia 7
Jiaxing 7
Muscat 7
Pachino 7
Piracicaba 7
Salt Lake City 7
Toronto 7
Turku 7
Totale 4.318
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Nome #
Management of croup in children 290
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome 101
Anderson-Fabry disease in children: The importance of early diagnosis 91
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS 84
Nephrotic syndrome: immunological mechanisms 73
Early detection of podiatric anomalies in children with Down syndrome. (IF 2.073) 68
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants 67
Alport's syndrome 66
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. 66
Redefining the Pulvinar Sign in Fabry Disease. 65
Home treatment using agalsidase alfa among patients with Fabry disease in Italy 65
Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia 63
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 62
Monosymptomatic enuresis: the therapeutic weapons 62
Cardiac involvement in Lysosomal Storage Diseases 62
Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more 61
Cardiac defects in RASopathies: a review of genotype- phenotype correlations 61
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge. 60
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria 60
Gastrointestinal Symptoms of Patients with Fabry Disease 59
Oxidative stress biomarkers in Fabry disease: is there a room for them? 59
Diabete, ipotiroidismo e celiachia nella Sindrome di Down. Descrizione di un caso clinico 58
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128) 57
Evolution of congenital hypothyroidism in a cohort of preterm born children 57
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 55
Sindrome di Down: correlazione tra grado di malattia in età evolutiva e psicopatologia materna 54
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365) 54
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 54
Gastrointestinal symptoms of patients with Fabry disease 53
La cardiomiopatia del figlio di madre diabetica 53
Una forma grave di tetrasomia 18p confermata con l’ibridazione in situ 52
Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica 51
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency 50
Profile of idursulfase for the treatment of Hunter syndrome 50
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. 50
XII Congresso della Sezione Calabrese della Società Italiana di Pediatria, Crotone 22/10/1994 50
Novel serum biomarkers for infection in paediatric emergency 49
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy 49
Cardiovascular complications in children with chronic kidney injury 49
Cardiac malformations in children with congenital hypothyroidism 49
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs 49
An overview of the main causes of neutropenia in childhood 49
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. (IF 3.157) 49
Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study 48
New Strategies for the Treatment of Phenylketonuria (PKU) 48
Trisomia parziale 4q associata ad ipoplasia laringea ed atresia delle coane 48
GAPO syndrome associated with vestibular dysfunction and hearing loss 48
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. 48
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report 47
Facing up to limits: a lesson from the Charlie Gard case.(IF 2.623) 47
17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence 46
Neurological Involvement in Tetrahydrobiopterin Deficiency 46
Congenital hypertrichosis, cardiomegaly and osteochondrodysplasia (Cantù syndrome): a new case with unusual radiological findings. (IF 2.391) 45
Renal involvement in paediatric Fabry disease 45
Childhood Neurometabolic Disorders 44
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders 44
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report 44
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. 44
Erythematous eruption with linear vesciculation and eosinophilia at birth 44
Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria 43
Clericuzio type Poikiloderma with Neutropenia Syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the Phenotype 43
Delezioni non contigue del cromosoma 22 associate a traslocazione sbilanciata in un soggetto con segni della sindrome di diGeorge/VCF 43
Functional abdominal pain 43
The heart in Anderson-Fabry disease 43
GENETIC SUSCEPTIBILITY TO GASTROINTESTINAL SYMPTOMS IN FABRY DISEASE 42
GASTROINTESTINAL SYMPTOMS AND FABRY DISEASE 42
MALATTIE GENETICHE: CLASSIFICAZIONE, PRINCIPI DIAGNOSTICI E APPROCCIO CLINICO 42
Hyperphenylalaninemia: From Diagnosis to Therapy 42
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 42
Dilated cardiomyopathy in mucolipidosis type 2 42
Norrbottnian clinical variant of Gaucher disease in Southern Italy. 41
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 41
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.(IF 3.057) 41
Unusual presentation of Henoch-Schönlein purpura 41
Infective endocarditis in children: state of the art 40
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency 40
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (IF 11.183) 40
Partial duplication 8q22.2-q24.3 in a patient with congenital malformations and normal psychomotor development 40
Newborn with hypertelorism, small palpebral fissures and eyelid ptosis 40
Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children? 39
Delayed gastric emptyng: a novel gastrointestinal finding in Turner’s syndrome 39
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years 39
SHOX mutations detected by FISH and direct sequencing in patients with short stature 39
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. (IF 6.365) 39
Partial trisomy 7q22-q34 due to malsegregation of a complex chromosomal rearrangement involving five chromosomes in a girl with mental retardation and multiple congenital malformations 39
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. (IF 11.202) 39
Which cystography in the diagnosis and grading of vesicoureteral reflux? 38
Valutazione dei livelli ematici di Vitamina B12, acido folico e ferro nella Sindrome di Down 38
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. 38
Anderson-Fabry Disease in children. 38
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach.(IF 2.873) 38
Genetic variants associated with gastrointestinal symptoms in Fabry disease. 38
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics. (IF 19.896) 38
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study 38
RECURRENT ABDOMINAL PAIN AND FABRY DISEASE 37
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). 37
Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease. 37
Occurance of thanatophoric dysplasia Type I (R248C) and hypochondroplasia (N5401C) mutations in two patients with achondroplasia phenotype 37
Pediatric urolithiasis 37
Werner syndrome: a rare mutation 37
Totale 5.152
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Categoria #
all - tutte 94.703
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 94.703
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021216 0 0 0 0 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
2025/20263.334 149 508 728 1.526 423 0 0 0 0 0 0 0
Totale 8.804