IRIS
CONCOLINO, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 4.607
AS - Asia 3.744
EU - Europa 1.409
SA - Sud America 1.360
Continente sconosciuto - Info sul continente non disponibili 340
AF - Africa 103
OC - Oceania 87
Totale 11.650
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Nazione #
US - Stati Uniti d'America 4.377
SG - Singapore 1.657
BR - Brasile 1.014
CN - Cina 766
IT - Italia 748
VN - Vietnam 598
IN - India 322
GB - Regno Unito 178
CA - Canada 135
AR - Argentina 128
SE - Svezia 126
ID - Indonesia 80
AU - Australia 77
EC - Ecuador 76
DE - Germania 71
UA - Ucraina 61
BD - Bangladesh 60
IQ - Iraq 48
MX - Messico 47
FR - Francia 35
HK - Hong Kong 35
TR - Turchia 35
CL - Cile 34
NL - Olanda 31
CO - Colombia 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 15
SA - Arabia Saudita 14
VE - Venezuela 14
JP - Giappone 13
GT - Guatemala 12
CZ - Repubblica Ceca 11
OM - Oman 11
RO - Romania 11
IR - Iran 9
TW - Taiwan 9
HN - Honduras 8
MY - Malesia 8
NZ - Nuova Zelanda 8
JO - Giordania 7
NP - Nepal 7
BE - Belgio 6
BS - Bahamas 6
CH - Svizzera 6
DZ - Algeria 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
IE - Irlanda 4
JM - Giamaica 4
KR - Corea 4
KZ - Kazakistan 4
NG - Nigeria 4
PT - Portogallo 4
AL - Albania 3
BG - Bulgaria 3
CR - Costa Rica 3
CU - Cuba 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
HR - Croazia 3
KW - Kuwait 3
LB - Libano 3
AM - Armenia 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BY - Bielorussia 2
DK - Danimarca 2
EE - Estonia 2
EU - Europa 2
GR - Grecia 2
LV - Lettonia 2
MQ - Martinica 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
Totale 11.305
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Città #
San Jose 881
Singapore 441
Ashburn 379
Santa Clara 292
Chandler 245
Council Bluffs 238
Hefei 238
Bengaluru 237
Milan 233
Ho Chi Minh City 226
Princeton 222
Lawrence 215
Dallas 170
London 109
Hanoi 108
Beijing 107
Chicago 103
Wilmington 98
Des Moines 90
São Paulo 89
Ottawa 83
Phoenix 63
Los Angeles 50
Shanghai 46
Catanzaro 45
Munich 44
Rio de Janeiro 37
Redwood City 36
Hong Kong 34
New York 31
Rome 31
Haiphong 28
Guarulhos 24
Thái Bình 24
Da Nang 23
Biên Hòa 22
Melbourne 22
Norwalk 22
Redmond 22
Boardman 21
Guayaquil 20
Quito 19
Curitiba 18
Santiago 18
Guangzhou 17
Lima 17
Porto Alegre 17
Belo Horizonte 16
Catania 16
Denver 16
Jakarta 16
Nairobi 16
Brooklyn 15
Buenos Aires 14
Helsinki 14
Salvador 14
San Francisco 14
Atlanta 13
Brasília 13
Manaus 13
Naples 13
Ninh Bình 13
Perth 13
Boston 12
Chennai 12
Pune 12
Sydney 12
Warsaw 12
Asunción 11
Montevideo 11
Hyderabad 10
Manchester 10
Montreal 10
Salt Lake City 10
Toronto 10
Bogotá 9
Boydton 9
Columbus 9
Hải Dương 9
Orem 9
Palermo 9
São José 9
Thái Nguyên 9
Tokyo 9
Verona 9
Zhengzhou 9
Baghdad 8
Bathurst 8
Brisbane 8
Buffalo 8
Dhaka 8
Guatemala City 8
Lahore 8
Lấp Vò 8
Padova 8
Riobamba 8
San Nicola Manfredi 8
Sumaré 8
Amman 7
Amsterdam 7
Totale 6.125
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Nome #
Management of croup in children 325
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome 113
Anderson-Fabry disease in children: The importance of early diagnosis 111
Diabete, ipotiroidismo e celiachia nella Sindrome di Down. Descrizione di un caso clinico 90
Home treatment using agalsidase alfa among patients with Fabry disease in Italy 90
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS 90
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 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. 88
Alport's syndrome 87
Nephrotic syndrome: immunological mechanisms 82
Cardiac involvement in Lysosomal Storage Diseases 82
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants 81
Early detection of podiatric anomalies in children with Down syndrome. (IF 2.073) 80
Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia 80
Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more 77
Monosymptomatic enuresis: the therapeutic weapons 76
Redefining the Pulvinar Sign in Fabry Disease. 75
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 75
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs 74
Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica 73
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report 70
Cardiac defects in RASopathies: a review of genotype- phenotype correlations 70
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria 70
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge. 69
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128) 68
Gastrointestinal Symptoms of Patients with Fabry Disease 68
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. 67
Oxidative stress biomarkers in Fabry disease: is there a room for them? 67
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365) 66
Cardiac malformations in children with congenital hypothyroidism 66
An overview of the main causes of neutropenia in childhood 66
Evolution of congenital hypothyroidism in a cohort of preterm born children 66
Sindrome di Down: correlazione tra grado di malattia in età evolutiva e psicopatologia materna 65
Clericuzio type Poikiloderma with Neutropenia Syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the Phenotype 65
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. (IF 6.365) 65
Cardiovascular complications in children with chronic kidney injury 65
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency 64
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 64
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. 64
Novel serum biomarkers for infection in paediatric emergency 63
17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence 63
XII Congresso della Sezione Calabrese della Società Italiana di Pediatria, Crotone 22/10/1994 63
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy 62
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy 62
Infective endocarditis in children: state of the art 61
Renal involvement in paediatric Fabry disease 61
GENETIC SUSCEPTIBILITY TO GASTROINTESTINAL SYMPTOMS IN FABRY DISEASE 59
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. (IF 3.157) 59
Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria 58
Gastrointestinal symptoms of patients with Fabry disease 58
GAPO syndrome associated with vestibular dysfunction and hearing loss 58
Facing up to limits: a lesson from the Charlie Gard case.(IF 2.623) 58
La cardiomiopatia del figlio di madre diabetica 58
Epilepsy, electroclinical features, and long-term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene 58
Profile of idursulfase for the treatment of Hunter syndrome 57
New Strategies for the Treatment of Phenylketonuria (PKU) 57
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report 57
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders 56
Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study 56
Trisomia parziale 4q associata ad ipoplasia laringea ed atresia delle coane 56
Una forma grave di tetrasomia 18p confermata con l’ibridazione in situ 56
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. 56
The heart in Anderson-Fabry disease 56
Genetic variants associated with gastrointestinal symptoms in Fabry disease. 54
Congenital hypertrichosis, cardiomegaly and osteochondrodysplasia (Cantù syndrome): a new case with unusual radiological findings. (IF 2.391) 54
Unusual presentation of Henoch-Schönlein purpura 54
Erythematous eruption with linear vesciculation and eosinophilia at birth 54
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study 54
Point of care lung ultrasound in preschool children with cystic fibrosis: a case-controlled, prospective, pilot study 53
GASTROINTESTINAL SYMPTOMS AND FABRY DISEASE 53
Neurological Involvement in Tetrahydrobiopterin Deficiency 53
Noninvasive quantitative ultrasound fatty liver evaluation of hepato‑renal index in pediatric patients using 3D‑slicer 52
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study 52
MALATTIE GENETICHE: CLASSIFICAZIONE, PRINCIPI DIAGNOSTICI E APPROCCIO CLINICO 52
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 52
Fabry disease and kidney involvement: starting from childhood to understand the future 52
Infectious diseases and metabolic emergencies in inborn errors of metabolism 52
KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review. 51
Which cystography in the diagnosis and grading of vesicoureteral reflux? 51
Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children? 51
Anderson-Fabry Disease in children. 51
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease. 51
Delezioni non contigue del cromosoma 22 associate a traslocazione sbilanciata in un soggetto con segni della sindrome di diGeorge/VCF 51
Werner syndrome: a rare mutation 51
Newborn with hypertelorism, small palpebral fissures and eyelid ptosis 51
Kawa-COVID-19 50
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus 50
Functional abdominal pain 50
Dilated cardiomyopathy in mucolipidosis type 2 50
Valutazione dei livelli ematici di Vitamina B12, acido folico e ferro nella Sindrome di Down 49
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency 49
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (IF 11.183) 49
Norrbottnian clinical variant of Gaucher disease in Southern Italy. 49
Partial duplication 8q22.2-q24.3 in a patient with congenital malformations and normal psychomotor development 49
RECURRENT ABDOMINAL PAIN AND FABRY DISEASE 48
Childhood Neurometabolic Disorders 48
Delayed gastric emptyng: a novel gastrointestinal finding in Turner’s syndrome 48
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). 48
Hyperphenylalaninemia: From Diagnosis to Therapy 48
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years 48
Totale 6.492
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Categoria #
all - tutte 114.541
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 114.541
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022557 0 0 0 110 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
2025/20265.127 149 508 728 1.526 433 107 440 332 565 218 68 53
2026/20271.053 63 271 569 150 0 0 0 0 0 0 0 0
Totale 11.650