IRIS
DELLA CASA, ROBERTO
 Distribuzione geografica
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Continente #
EU - Europa 2.992
AS - Asia 2.951
NA - Nord America 2.924
SA - Sud America 446
AF - Africa 91
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 4
Totale 9.415
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Nazione #
US - Stati Uniti d'America 2.814
SG - Singapore 1.783
RU - Federazione Russa 1.325
CN - Cina 562
IT - Italia 466
BR - Brasile 370
UA - Ucraina 326
HK - Hong Kong 320
DE - Germania 254
FI - Finlandia 168
VN - Vietnam 138
NL - Olanda 107
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 11
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 9.408
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Città #
Singapore 696
Moscow 329
Hong Kong 319
Chandler 292
Ashburn 250
Jacksonville 248
Beijing 152
Santa Clara 146
Millbury 129
Princeton 120
Los Angeles 105
Amsterdam 98
Nanjing 90
Boston 82
Naples 77
Wilmington 62
Buffalo 53
Ho Chi Minh City 48
Kronberg 44
Munich 44
The Dalles 42
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 15
Stockholm 15
Johannesburg 14
Seattle 14
Tashkent 13
Mexico City 12
Poplar 12
Washington 12
Dublin 11
Tokyo 11
Turin 11
Changsha 10
Falls Church 10
Lawrence 10
Maceió 10
Manchester 10
Phoenix 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
Quito 7
Da Nang 6
Haiphong 6
Hangzhou 6
Nuremberg 6
Taizhou 6
Toronto 6
Baku 5
Biên Hòa 5
Brasília 5
Campinas 5
Dearborn 5
Florence 5
Guangzhou 5
Guarulhos 5
Joinville 5
Montes Claros 5
Totale 4.516
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Nome #
microRNAs as biomarkers in Pompe disease 157
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 146
A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome 144
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 142
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 141
Brain damage in glycogen storage disease type I 135
SINDROME DISMORFICA ASSOCIATA A DUPLICAZIONE DE NOVO DEL BRACCIO CORTO DEL CROMOSOMA 2 129
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 128
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 128
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 126
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 126
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 123
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. 118
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 111
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 110
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 108
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 108
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 106
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 105
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 103
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 102
Sindrome di West ed errori congeniti del metabolismo 101
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 100
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 98
Otorhinolaryngological management in the Mucopolysaccharidoses 98
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 97
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)-related disorder 95
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 94
COMPLICANZA POLMONARE LETALE IN PAZIENTE AFFETTO DA INTOLLERANZA ALLE PROTEINE CON LISINURIA 94
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 94
Bone metabolism impairment in glycogen storage disease type 1: a case control study 93
Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. 92
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 92
Colorazione anomala e odore anomalo delle urine 87
Cardiomiopatia ipertrofica in un caso di sindrome di Berardinelli 86
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 83
INNOVATIVE THERAPY WITH SODIUM-PHENYLBUTYRATE IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE 83
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder. 83
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 83
Sindrome di Williams Descrizione di 21 casi 82
ANOMALIE CARDIACHE IN MALATTIE METABOLICHE 81
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 81
TRASLOCAZIONE COMPLESSA APPARENTEMENTE BILANCIATA 46,XX, t(2;7;8) IN UN PAZIENTE CON LIEVI NOTE DISMORFICHE E RITARDO DELLO SVILUPPO PSICOMOTORIO 80
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 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. 79
Deglutizione nei pazienti con disabilità grave, La disfagia nelle malattie metaboliche 79
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 73
Management of otolaryngological manifestations in the mucopolysaccaridoses: our experience. 72
Sindrome di Williams: descrizione di 18 casi 70
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 70
CARNITINE DEFICIENCY IN A PATIENT WITH PROPIONIC ACIDAEMIA AND CARDIOMYOPATHY 70
An emerging phenotype of proximal 11q deletions. 70
CARDIOMIOPATIA IN CORSO DI PROPIONICOACIDEMIA: RUOLO DELLA TERAPIA CON CARNITINA 69
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 69
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. 68
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 68
Effect of supplementation with vitamin E on neutropenia in patients with glycogen storage disease type 1B 66
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 66
A case of galactosemia misdiagnosed as cow's milk intolerance 65
Nefropatia e risposta alla terapia con ACE-inibitore in pazienti affetti da glicogenosi tipo I 64
Osteoporosis in glycogen storage disease type 1 patients 64
3. Lesioni focali in pazienti affetti da glicogenosi tipo I 63
Sindrome di West ed errori congeniti del metabolismo. 63
Danno cerebrale in pazienti affetti da glicogenosi tipo I: identificazione ed ipotesi patogenetiche 62
La S. di Parader Willi, La clinica in pediatria 62
Lymphopenia and impaired lymphocyte proliferation cause increased risk for autoimmune disorders in patients affected by glycogen storage disease type 1B 62
Neurometabolic epilepsies: the experience at a one pediatric centre 61
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 60
Idrocefalo tetraventricolare acquisito in paziente affetta da sindrome di Smith-Lemli-Opitz 59
EVOLUZIONE DELLA CARDIOMIOPATIA IPERTROFICA NEL NEONATO 57
Sclerosi Tuberosa e Sindrome di W.P.W- Associazione casuale? 57
EPILEPSY IN TYPE I GLYCOGENOSIS 57
ANOMALIE CARDIACHE NELLA SCLEROSI TUBEROSA 57
Artropatie infantili e malattie da accumulo lisosomiale 57
Glicogenosi tipo I ed epilessia: descrizione di due casi 57
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 57
Studio ecocardiografico della funzione cardiaca in bambini affetti da ipotiroidismo congenito prima e dopo terapia sostitutiva ormonale. 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
Spectrum of inflammatory bowel involvement in Glycogen storage diasease type Ib. 55
SINDROME MALFORMATIVA CON DELEZIONE TERMINALE DEL CROMOSOMA 13 (q12-qter) PRESENTE NEI FIBROBLASTI ED ASSENTE NEI LINFOCITI PERIFERICI 55
Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study 55
RECURRENT OF DOWN S./WOLF-HIRSCHHOM S.PHENOTYPE DUE TO A PARENTAL BALANCED TRANSLOCATION (4;21)(p16.3:q22.1) 54
MODALITA' DI ESORDIO CLINICO DELLA SCLEROSI TUBEROSA NEI PRIMI MESI DI VITA 54
Associazione monosomia 22q e trisomia 19p: primo caso descritto in letteratura 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
LESIONI MALFORMATIVE MULTIPLE ED ANOMALIA DI PETER: UNA NUOVA ASSOCIAZIONE 53
Malattia di Niemann-Pick tipo A. studio RM in due casi 53
Isovaleric acidemia 52
Un caso di encefalopatia metilmalonica. 51
Terapia dietetica con una miscela di L-aminoacidi (OS 1 Milupa) in un caso di Metilmalonico aciduria 50
EMBRIOFETOPATIA IN DUE MADRI ADOLESCENTI CON DIABETE MELLITO INSULINO-DIPENDENTE 50
Osteoporosi e metabolismo calcio/fosforo in pazienti affetti da glicogenosi tipo I 50
Ritardo mentale e ipoplasie cerebellari. 50
Totale 8.146
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Categoria #
all - tutte 33.282
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 33.282
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021304 0 0 0 0 0 80 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
2025/20262.957 628 293 438 424 988 186 0 0 0 0 0 0
Totale 9.540