IRIS
DELLA CASA, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 4.704
AS - Asia 3.929
EU - Europa 3.271
SA - Sud America 485
Continente sconosciuto - Info sul continente non disponibili 133
AF - Africa 111
OC - Oceania 5
Totale 12.638
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Nazione #
US - Stati Uniti d'America 4.543
SG - Singapore 1.874
RU - Federazione Russa 1.325
VN - Vietnam 741
CN - Cina 619
IT - Italia 512
BR - Brasile 390
HK - Hong Kong 345
UA - Ucraina 327
DE - Germania 270
FR - Francia 230
FI - Finlandia 170
GB - Regno Unito 114
NL - Olanda 113
CA - Canada 86
IE - Irlanda 71
IN - India 61
JP - Giappone 50
CI - Costa d'Avorio 38
SE - Svezia 34
MX - Messico 31
PH - Filippine 30
BD - Bangladesh 29
ZA - Sudafrica 29
AR - Argentina 28
IQ - Iraq 24
TH - Thailandia 23
TR - Turchia 23
PL - Polonia 22
ES - Italia 18
UZ - Uzbekistan 16
PK - Pakistan 14
EC - Ecuador 13
CO - Colombia 12
JM - Giamaica 12
VE - Venezuela 12
KR - Corea 11
KE - Kenya 10
TW - Taiwan 10
PY - Paraguay 9
AT - Austria 8
DZ - Algeria 8
EG - Egitto 8
HN - Honduras 8
ID - Indonesia 8
CL - Cile 7
JO - Giordania 7
AZ - Azerbaigian 6
BE - Belgio 6
CR - Costa Rica 6
UY - Uruguay 6
AL - Albania 5
MY - Malesia 5
PE - Perù 5
AU - Australia 4
BG - Bulgaria 4
CH - Svizzera 4
CZ - Repubblica Ceca 4
IR - Iran 4
LT - Lituania 4
LV - Lettonia 4
MA - Marocco 4
NP - Nepal 4
SA - Arabia Saudita 4
DK - Danimarca 3
ET - Etiopia 3
EU - Europa 3
IL - Israele 3
MD - Moldavia 3
PT - Portogallo 3
RO - Romania 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
BB - Barbados 2
BH - Bahrain 2
BO - Bolivia 2
BS - Bahamas 2
CW - ???statistics.table.value.countryCode.CW??? 2
KG - Kirghizistan 2
KZ - Kazakistan 2
ME - Montenegro 2
MK - Macedonia 2
MN - Mongolia 2
MQ - Martinica 2
PA - Panama 2
PR - Porto Rico 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BW - Botswana 1
BY - Bielorussia 1
CU - Cuba 1
CY - Cipro 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GE - Georgia 1
GN - Guinea 1
Totale 12.492
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Città #
Singapore 749
San Jose 735
Ashburn 402
Hong Kong 330
Moscow 329
Chandler 292
Jacksonville 250
Ho Chi Minh City 231
Council Bluffs 229
Santa Clara 164
Beijing 158
Hanoi 158
The Dalles 149
Millbury 129
Princeton 122
Los Angeles 118
Lauterbourg 117
Amsterdam 101
Nanjing 90
Boston 82
Naples 81
Dallas 62
Wilmington 62
New York 61
Buffalo 54
Phoenix 51
Tokyo 48
Kronberg 44
Munich 44
Woodbridge 39
São Paulo 35
Atlanta 31
Da Nang 31
Haiphong 31
Ottawa 30
Frankfurt am Main 28
Napoli 28
Orem 27
Helsinki 25
Redondo Beach 25
Turku 25
Nanchang 24
Shenyang 24
Houston 23
Rome 23
Hebei 22
Montreal 22
Tianjin 22
London 21
Brooklyn 20
Denver 20
Milan 20
Norwalk 20
Warsaw 20
Des Moines 18
Hefei 18
Jiaxing 18
Chicago 17
Falkenstein 16
Seattle 15
Stockholm 15
Tashkent 15
Johannesburg 14
Washington 14
Augusta 13
San Francisco 13
Baghdad 12
Dublin 12
Manchester 12
Mexico City 12
Poplar 12
Turin 12
Chennai 11
Bangkok 10
Changsha 10
Falls Church 10
Lawrence 10
Maceió 10
Rio de Janeiro 10
Ann Arbor 9
Belo Horizonte 9
Biên Hòa 9
Nairobi 9
Nuremberg 9
Orange 9
Boardman 8
Curitiba 8
Long Xuyen 8
Mumbai 8
Ningbo 8
San Mateo 8
Điện Bàn 8
Amman 7
Ankara 7
Bắc Giang 7
Cleveland 7
Düsseldorf 7
Kunming 7
Phủ Lý 7
Quito 7
Totale 6.573
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Nome #
microRNAs as biomarkers in Pompe disease 197
A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome 177
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 176
Brain damage in glycogen storage disease type I 174
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 171
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 169
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 167
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 164
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 164
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 160
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 155
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 152
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 150
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 150
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 146
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 146
SINDROME DISMORFICA ASSOCIATA A DUPLICAZIONE DE NOVO DEL BRACCIO CORTO DEL CROMOSOMA 2 144
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 142
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 141
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 139
Otorhinolaryngological management in the Mucopolysaccharidoses 137
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 136
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 135
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 133
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 131
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 130
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management 129
Bone metabolism impairment in glycogen storage disease type 1: a case control study 126
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 126
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 124
Sindrome di West ed errori congeniti del metabolismo 121
COMPLICANZA POLMONARE LETALE IN PAZIENTE AFFETTO DA INTOLLERANZA ALLE PROTEINE CON LISINURIA 120
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 120
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)-related disorder 120
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 117
Colorazione anomala e odore anomalo delle urine 115
Cardiomiopatia ipertrofica in un caso di sindrome di Berardinelli 113
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. 113
Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. 112
Autoimmune endocrine disorders in a patient affetcted by glycogen storage disease 1B: casual relationship between neutropenia and autoimmunity 108
Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia 108
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder. 106
INNOVATIVE THERAPY WITH SODIUM-PHENYLBUTYRATE IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE 105
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. 105
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 104
TRASLOCAZIONE COMPLESSA APPARENTEMENTE BILANCIATA 46,XX, t(2;7;8) IN UN PAZIENTE CON LIEVI NOTE DISMORFICHE E RITARDO DELLO SVILUPPO PSICOMOTORIO 103
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 103
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 103
Sindrome di Williams Descrizione di 21 casi 102
ANOMALIE CARDIACHE IN MALATTIE METABOLICHE 102
Deglutizione nei pazienti con disabilità grave, La disfagia nelle malattie metaboliche 100
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 99
DIFETTO DEL SETTO INTERVENTRICOLARE NEL PRIMO ANNO DI VITA 98
Management of otolaryngological manifestations in the mucopolysaccaridoses: our experience. 97
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 96
Effect of supplementation with vitamin E on neutropenia in patients with glycogen storage disease type 1B 93
CARNITINE DEFICIENCY IN A PATIENT WITH PROPIONIC ACIDAEMIA AND CARDIOMYOPATHY 90
Osteoporosis in glycogen storage disease type 1 patients 90
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 89
Sindrome di Williams: descrizione di 18 casi 88
An emerging phenotype of proximal 11q deletions. 88
EVOLUZIONE DELLA CARDIOMIOPATIA IPERTROFICA NEL NEONATO 87
La S. di Parader Willi, La clinica in pediatria 87
A case of galactosemia misdiagnosed as cow's milk intolerance 85
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 85
CARDIOMIOPATIA IN CORSO DI PROPIONICOACIDEMIA: RUOLO DELLA TERAPIA CON CARNITINA 84
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 83
3. Lesioni focali in pazienti affetti da glicogenosi tipo I 82
Lymphopenia and impaired lymphocyte proliferation cause increased risk for autoimmune disorders in patients affected by glycogen storage disease type 1B 82
Un caso di encefalopatia metilmalonica. 82
Studio ecocardiografico della funzione cardiaca in bambini affetti da ipotiroidismo congenito prima e dopo terapia sostitutiva ormonale. 81
Nefropatia e risposta alla terapia con ACE-inibitore in pazienti affetti da glicogenosi tipo I 81
Glicogenosi tipo I ed epilessia: descrizione di due casi 81
Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study 81
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 80
Danno cerebrale in pazienti affetti da glicogenosi tipo I: identificazione ed ipotesi patogenetiche 80
Hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type I 80
Sindrome di West ed errori congeniti del metabolismo. 79
Idrocefalo tetraventricolare acquisito in paziente affetta da sindrome di Smith-Lemli-Opitz 78
Neurometabolic epilepsies: the experience at a one pediatric centre 77
Malattia di Niemann-Pick tipo A. studio RM in due casi 77
Un caso di malformazioni congenite multiple e ritardo mentale con caratteristiche della sindrome di Aicardi 77
Epilepsy in inherited metabolic disorders: a pediatric series 76
Associazione monosomia 22q e trisomia 19p: primo caso descritto in letteratura 75
MODALITA' DI ESORDIO CLINICO DELLA SCLEROSI TUBEROSA NEI PRIMI MESI DI VITA 74
SINDROME DI BECKWITH-WIEDEMANN: DIFETTI GENETICI ED EPIGENETICI E CORRELAZIONE GENOTIPO-FENOTIPO 73
EPILEPSY IN TYPE I GLYCOGENOSIS 73
SINDROME MALFORMATIVA CON DELEZIONE TERMINALE DEL CROMOSOMA 13 (q12-qter) PRESENTE NEI FIBROBLASTI ED ASSENTE NEI LINFOCITI PERIFERICI 72
EMBRIOFETOPATIA IN DUE MADRI ADOLESCENTI CON DIABETE MELLITO INSULINO-DIPENDENTE 72
Isovaleric acidemia 72
RECURRENT OF DOWN S./WOLF-HIRSCHHOM S.PHENOTYPE DUE TO A PARENTAL BALANCED TRANSLOCATION (4;21)(p16.3:q22.1) 71
ANOMALIE CARDIACHE NELLA SCLEROSI TUBEROSA 71
The Beckwith-Wiedemann Syndrome: genetic and epigenetic defects in bipartite cluster of imprintend genes. 70
Spectrum of inflammatory bowel involvement in Glycogen storage diasease type Ib. 70
Artropatie infantili e malattie da accumulo lisosomiale 70
LESIONI MALFORMATIVE MULTIPLE ED ANOMALIA DI PETER: UNA NUOVA ASSOCIAZIONE 68
Epidemiologia delle malttie rare 67
Epilessia e disturbi congeniti del metabolismo 67
Neurological outcome in three patients with combined methylmalonic aciduria and homocystinuria (CblC) 67
Ritardo mentale e ipoplasie cerebellari. 67
Totale 10.703
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Categoria #
all - tutte 44.505
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 44.505
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022572 0 0 0 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
2025/20265.378 628 293 438 424 988 254 696 262 747 341 187 120
2026/2027677 118 154 169 236 0 0 0 0 0 0 0 0
Totale 12.638