IRIS
DELLA CASA, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 3.088
EU - Europa 2.994
AS - Asia 2.987
SA - Sud America 446
AF - Africa 91
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 4
Totale 9.617
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Nazione #
US - Stati Uniti d'America 2.978
SG - Singapore 1.813
RU - Federazione Russa 1.325
CN - Cina 567
IT - Italia 466
BR - Brasile 370
UA - Ucraina 326
HK - Hong Kong 320
DE - Germania 255
FI - Finlandia 168
VN - Vietnam 138
NL - Olanda 108
GB - Regno Unito 94
IE - Irlanda 70
CA - Canada 61
FR - Francia 61
CI - Costa d'Avorio 38
IN - India 37
SE - Svezia 34
ZA - Sudafrica 29
AR - Argentina 28
MX - Messico 28
PL - Polonia 21
TR - Turchia 17
ES - Italia 14
UZ - Uzbekistan 14
EC - Ecuador 13
JP - Giappone 12
BD - Bangladesh 9
IQ - Iraq 9
AT - Austria 8
ID - Indonesia 7
PY - Paraguay 7
VE - Venezuela 7
AZ - Azerbaigian 6
PK - Pakistan 6
BE - Belgio 5
CL - Cile 5
CO - Colombia 5
DZ - Algeria 5
JM - Giamaica 5
KE - Kenya 5
UY - Uruguay 5
AL - Albania 4
BG - Bulgaria 4
CZ - Repubblica Ceca 4
HN - Honduras 4
IR - Iran 4
LT - Lituania 4
MA - Marocco 4
PE - Perù 4
AU - Australia 3
EU - Europa 3
JO - Giordania 3
LV - Lettonia 3
MD - Moldavia 3
PH - Filippine 3
RO - Romania 3
SA - Arabia Saudita 3
BB - Barbados 2
BH - Bahrain 2
CW - ???statistics.table.value.countryCode.CW??? 2
IL - Israele 2
KZ - Kazakistan 2
ME - Montenegro 2
MK - Macedonia 2
NP - Nepal 2
PA - Panama 2
PT - Portogallo 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
TW - Taiwan 2
XK - ???statistics.table.value.countryCode.XK??? 2
AE - Emirati Arabi Uniti 1
AO - Angola 1
BO - Bolivia 1
BS - Bahamas 1
BW - Botswana 1
BY - Bielorussia 1
CU - Cuba 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GA - Gabon 1
GE - Georgia 1
GN - Guinea 1
GR - Grecia 1
GY - Guiana 1
IS - Islanda 1
KG - Kirghizistan 1
KR - Corea 1
LB - Libano 1
LC - Santa Lucia 1
ML - Mali 1
MM - Myanmar 1
MQ - Martinica 1
MY - Malesia 1
NA - Namibia 1
NI - Nicaragua 1
PF - Polinesia Francese 1
Totale 9.610
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Città #
Singapore 697
Moscow 329
Hong Kong 319
Chandler 292
Ashburn 279
Jacksonville 248
Beijing 152
Santa Clara 146
Millbury 129
San Jose 122
Princeton 120
Los Angeles 105
Amsterdam 98
Nanjing 90
Boston 82
Naples 77
Wilmington 62
The Dalles 56
Buffalo 53
Ho Chi Minh City 48
Kronberg 44
Munich 44
New York 41
Dallas 39
Woodbridge 39
Ottawa 30
São Paulo 30
Napoli 28
Hanoi 25
Redondo Beach 25
Turku 25
Helsinki 24
Nanchang 24
Shenyang 23
Hebei 22
Houston 20
Norwalk 20
Tianjin 20
Brooklyn 19
Frankfurt am Main 19
London 19
Rome 19
Warsaw 19
Atlanta 18
Hefei 18
Jiaxing 18
Milan 17
Montreal 17
Denver 16
Des Moines 16
Falkenstein 16
Orem 16
Stockholm 15
Johannesburg 14
Seattle 14
Tashkent 13
Mexico City 12
Poplar 12
Tokyo 12
Washington 12
Dublin 11
Phoenix 11
Turin 11
Changsha 10
Falls Church 10
Lawrence 10
Maceió 10
Manchester 10
Rio de Janeiro 10
Ann Arbor 9
Augusta 9
Belo Horizonte 9
Chicago 9
Orange 9
Boardman 8
Chennai 8
Curitiba 8
Mumbai 8
San Francisco 8
San Mateo 8
Ankara 7
Düsseldorf 7
Kunming 7
Ningbo 7
Nuremberg 7
Quito 7
Da Nang 6
Haiphong 6
Hangzhou 6
Taizhou 6
Toronto 6
Baku 5
Biên Hòa 5
Brasília 5
Campinas 5
Dearborn 5
Florence 5
Guangzhou 5
Guarulhos 5
Joinville 5
Totale 4.681
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Nome #
microRNAs as biomarkers in Pompe disease 161
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 150
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 145
A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome 144
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 143
Brain damage in glycogen storage disease type I 137
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs 133
SINDROME DISMORFICA ASSOCIATA A DUPLICAZIONE DE NOVO DEL BRACCIO CORTO DEL CROMOSOMA 2 131
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 130
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 129
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 128
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 128
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 121
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 120
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 116
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 112
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 111
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 111
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 109
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 107
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 105
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 105
Otorhinolaryngological management in the Mucopolysaccharidoses 103
Sindrome di West ed errori congeniti del metabolismo 102
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 102
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 100
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 99
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 99
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 96
COMPLICANZA POLMONARE LETALE IN PAZIENTE AFFETTO DA INTOLLERANZA ALLE PROTEINE CON LISINURIA 96
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)-related disorder 95
Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. 95
INNOVATIVE THERAPY WITH SODIUM-PHENYLBUTYRATE IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE 94
Bone metabolism impairment in glycogen storage disease type 1: a case control study 93
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 93
Colorazione anomala e odore anomalo delle urine 91
Cardiomiopatia ipertrofica in un caso di sindrome di Berardinelli 86
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder. 85
ANOMALIE CARDIACHE IN MALATTIE METABOLICHE 84
The GH-IGF axis in glycogen storage disease type 1 (GSD1): evidence of different growth patterns and IGF levels in patients with GSD1A and GSD1B 84
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 83
Sindrome di Williams Descrizione di 21 casi 83
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 83
TRASLOCAZIONE COMPLESSA APPARENTEMENTE BILANCIATA 46,XX, t(2;7;8) IN UN PAZIENTE CON LIEVI NOTE DISMORFICHE E RITARDO DELLO SVILUPPO PSICOMOTORIO 81
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. 81
Deglutizione nei pazienti con disabilità grave, La disfagia nelle malattie metaboliche 81
Autoimmune endocrine disorders in a patient affetcted by glycogen storage disease 1B: casual relationship between neutropenia and autoimmunity 80
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 80
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management 79
Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia 77
DIFETTO DEL SETTO INTERVENTRICOLARE NEL PRIMO ANNO DI VITA 76
Management of otolaryngological manifestations in the mucopolysaccaridoses: our experience. 74
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. 73
CARNITINE DEFICIENCY IN A PATIENT WITH PROPIONIC ACIDAEMIA AND CARDIOMYOPATHY 72
CARDIOMIOPATIA IN CORSO DI PROPIONICOACIDEMIA: RUOLO DELLA TERAPIA CON CARNITINA 72
Sindrome di Williams: descrizione di 18 casi 71
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 70
An emerging phenotype of proximal 11q deletions. 70
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 70
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 69
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 67
Nefropatia e risposta alla terapia con ACE-inibitore in pazienti affetti da glicogenosi tipo I 66
Effect of supplementation with vitamin E on neutropenia in patients with glycogen storage disease type 1B 66
Sindrome di West ed errori congeniti del metabolismo. 66
A case of galactosemia misdiagnosed as cow's milk intolerance 66
3. Lesioni focali in pazienti affetti da glicogenosi tipo I 64
Danno cerebrale in pazienti affetti da glicogenosi tipo I: identificazione ed ipotesi patogenetiche 64
Osteoporosis in glycogen storage disease type 1 patients 64
La S. di Parader Willi, La clinica in pediatria 63
Lymphopenia and impaired lymphocyte proliferation cause increased risk for autoimmune disorders in patients affected by glycogen storage disease type 1B 62
Molecucal and cytogenetic chracterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions 61
Idrocefalo tetraventricolare acquisito in paziente affetta da sindrome di Smith-Lemli-Opitz 61
Neurometabolic epilepsies: the experience at a one pediatric centre 61
EVOLUZIONE DELLA CARDIOMIOPATIA IPERTROFICA NEL NEONATO 60
ANOMALIE CARDIACHE NELLA SCLEROSI TUBEROSA 60
Glicogenosi tipo I ed epilessia: descrizione di due casi 59
MODALITA' DI ESORDIO CLINICO DELLA SCLEROSI TUBEROSA NEI PRIMI MESI DI VITA 58
EPILEPSY IN TYPE I GLYCOGENOSIS 58
Artropatie infantili e malattie da accumulo lisosomiale 58
Studio ecocardiografico della funzione cardiaca in bambini affetti da ipotiroidismo congenito prima e dopo terapia sostitutiva ormonale. 57
Spectrum of inflammatory bowel involvement in Glycogen storage diasease type Ib. 57
Sclerosi Tuberosa e Sindrome di W.P.W- Associazione casuale? 57
SINDROME MALFORMATIVA CON DELEZIONE TERMINALE DEL CROMOSOMA 13 (q12-qter) PRESENTE NEI FIBROBLASTI ED ASSENTE NEI LINFOCITI PERIFERICI 57
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 57
Malattia di Niemann-Pick tipo A. studio RM in due casi 56
Un caso di malformazioni congenite multiple e ritardo mentale con caratteristiche della sindrome di Aicardi 56
The Beckwith-Wiedemann Syndrome: genetic and epigenetic defects in bipartite cluster of imprintend genes. 55
RECURRENT OF DOWN S./WOLF-HIRSCHHOM S.PHENOTYPE DUE TO A PARENTAL BALANCED TRANSLOCATION (4;21)(p16.3:q22.1) 55
Associazione monosomia 22q e trisomia 19p: primo caso descritto in letteratura 55
Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study 55
LESIONI MALFORMATIVE MULTIPLE ED ANOMALIA DI PETER: UNA NUOVA ASSOCIAZIONE 54
Isovaleric acidemia 54
Hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type I 54
SINDROME DI BECKWITH-WIEDEMANN: DIFETTI GENETICI ED EPIGENETICI E CORRELAZIONE GENOTIPO-FENOTIPO 53
null 53
Terapia dietetica con una miscela di L-aminoacidi (OS 1 Milupa) in un caso di Metilmalonico aciduria 52
EMBRIOFETOPATIA IN DUE MADRI ADOLESCENTI CON DIABETE MELLITO INSULINO-DIPENDENTE 52
Un caso di encefalopatia metilmalonica. 52
Osteoporosi e metabolismo calcio/fosforo in pazienti affetti da glicogenosi tipo I 51
Ritardo mentale e ipoplasie cerebellari. 50
Totale 8.324
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Categoria #
all - tutte 33.992
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 33.992
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021224 0 0 0 0 0 0 60 10 66 5 75 8
2021/2022584 5 2 5 24 2 10 9 29 74 42 110 272
2022/2023746 142 57 14 52 81 72 4 70 108 103 27 16
2023/2024582 28 72 84 45 40 66 11 97 1 9 100 29
2024/20253.044 175 188 21 42 63 110 304 199 294 368 1.014 266
2025/20263.159 628 293 438 424 988 254 134 0 0 0 0 0
Totale 9.742