IRIS
DELLA CASA, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 2.039
EU - Europa 1.460
AS - Asia 1.097
AF - Africa 44
SA - Sud America 42
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 4.687
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Nazione #
US - Stati Uniti d'America 1.994
SG - Singapore 567
IT - Italia 436
UA - Ucraina 311
CN - Cina 285
HK - Hong Kong 221
DE - Germania 172
FI - Finlandia 142
RU - Federazione Russa 118
NL - Olanda 98
IE - Irlanda 61
FR - Francia 42
GB - Regno Unito 41
CI - Costa d'Avorio 38
CA - Canada 35
BR - Brasile 33
SE - Svezia 18
IN - India 10
MX - Messico 8
BE - Belgio 5
BG - Bulgaria 4
ES - Italia 4
VE - Venezuela 4
AT - Austria 3
EU - Europa 3
PY - Paraguay 3
UZ - Uzbekistan 3
AU - Australia 2
CZ - Repubblica Ceca 2
IR - Iran 2
MA - Marocco 2
PL - Polonia 2
AZ - Azerbaigian 1
BD - Bangladesh 1
BH - Bahrain 1
DZ - Algeria 1
EC - Ecuador 1
JM - Giamaica 1
KE - Kenya 1
MM - Myanmar 1
NI - Nicaragua 1
PE - Perù 1
PH - Filippine 1
PK - Pakistan 1
RO - Romania 1
SA - Arabia Saudita 1
TN - Tunisia 1
TR - Turchia 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 4.687
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Città #
Singapore 318
Chandler 292
Jacksonville 245
Hong Kong 221
Santa Clara 132
Millbury 129
Princeton 120
Ashburn 109
Amsterdam 92
Nanjing 90
Naples 75
Boston 67
Wilmington 61
Kronberg 44
Woodbridge 39
Ottawa 29
Napoli 28
Nanchang 24
Helsinki 23
Shenyang 23
Hebei 22
Beijing 21
Norwalk 20
Jiaxing 18
Des Moines 16
Falkenstein 16
Rome 16
Milan 14
Tianjin 14
The Dalles 13
Washington 12
Houston 11
Changsha 10
Falls Church 10
Lawrence 10
Ann Arbor 9
Orange 9
Seattle 9
Augusta 8
Boardman 8
Munich 8
San Mateo 8
Kunming 7
Ningbo 7
Hangzhou 6
Taizhou 6
Dearborn 5
Bari 4
Dallas 4
Florence 4
Jinan 4
Nuremberg 4
Rio Saliceto 4
Serramazzoni 4
Sofia 4
Torino 4
Toronto 4
Aversa 3
Bergamo 3
Brussels 3
Changchun 3
Frankfurt am Main 3
Guangzhou 3
London 3
Los Angeles 3
Noci 3
Pune 3
Tashkent 3
Vigía 3
Woodstock 3
Zhengzhou 3
Abbey Wood 2
Andover 2
Apodaca 2
Asunción 2
Atlanta 2
Benalmádena 2
Betim 2
Brisbane 2
Brno 2
Cambridge 2
Canicattì 2
Dublin 2
Giarre 2
Guarulhos 2
Indiana 2
Jesi 2
Leawood 2
Mexico City 2
Montesilvano Marina 2
Padova 2
Perugia 2
Premolo 2
Rio de Janeiro 2
San Nicola Manfredi 2
Sciacca 2
Simi Valley 2
Trieste 2
Turin 2
Varedo 2
Totale 2.614
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Nome #
SINDROME DISMORFICA ASSOCIATA A DUPLICAZIONE DE NOVO DEL BRACCIO CORTO DEL CROMOSOMA 2 108
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 88
microRNAs as biomarkers in Pompe disease 74
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 69
Sindrome di West ed errori congeniti del metabolismo 68
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 67
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 65
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 65
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 64
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 63
TRASLOCAZIONE COMPLESSA APPARENTEMENTE BILANCIATA 46,XX, t(2;7;8) IN UN PAZIENTE CON LIEVI NOTE DISMORFICHE E RITARDO DELLO SVILUPPO PSICOMOTORIO 60
Brain damage in glycogen storage disease type I 59
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 59
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 59
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 58
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 56
A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome 56
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 56
Deglutizione nei pazienti con disabilità grave, La disfagia nelle malattie metaboliche 55
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 53
null 53
Colorazione anomala e odore anomalo delle urine 52
COMPLICANZA POLMONARE LETALE IN PAZIENTE AFFETTO DA INTOLLERANZA ALLE PROTEINE CON LISINURIA 51
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 51
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 50
Cardiomiopatia ipertrofica in un caso di sindrome di Berardinelli 48
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management 48
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 47
CARNITINE DEFICIENCY IN A PATIENT WITH PROPIONIC ACIDAEMIA AND CARDIOMYOPATHY 47
Sindrome di Williams Descrizione di 21 casi 45
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 45
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 45
CARDIOMIOPATIA IN CORSO DI PROPIONICOACIDEMIA: RUOLO DELLA TERAPIA CON CARNITINA 44
Bone metabolism impairment in glycogen storage disease type 1: a case control study 44
3. Lesioni focali in pazienti affetti da glicogenosi tipo I 43
An emerging phenotype of proximal 11q deletions. 43
INNOVATIVE THERAPY WITH SODIUM-PHENYLBUTYRATE IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE 42
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 42
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 41
La S. di Parader Willi, La clinica in pediatria 41
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 40
ANOMALIE CARDIACHE NELLA SCLEROSI TUBEROSA 39
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 38
ANOMALIE CARDIACHE IN MALATTIE METABOLICHE 38
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 38
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 37
Studio ecocardiografico della funzione cardiaca in bambini affetti da ipotiroidismo congenito prima e dopo terapia sostitutiva ormonale. 37
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 37
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 37
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder. 36
Associazione monosomia 22q e trisomia 19p: primo caso descritto in letteratura 36
A case of galactosemia misdiagnosed as cow's milk intolerance 36
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 36
Sindrome di Williams: descrizione di 18 casi 35
Nefropatia e risposta alla terapia con ACE-inibitore in pazienti affetti da glicogenosi tipo I 35
Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study 35
EVOLUZIONE DELLA CARDIOMIOPATIA IPERTROFICA NEL NEONATO 34
SINDROME MALFORMATIVA CON DELEZIONE TERMINALE DEL CROMOSOMA 13 (q12-qter) PRESENTE NEI FIBROBLASTI ED ASSENTE NEI LINFOCITI PERIFERICI 34
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 34
Autoimmune endocrine disorders in a patient affetcted by glycogen storage disease 1B: casual relationship between neutropenia and autoimmunity 34
Osteoporosis in glycogen storage disease type 1 patients 34
Sindrome di West ed errori congeniti del metabolismo. 34
DIFETTO DEL SETTO INTERVENTRICOLARE NEL PRIMO ANNO DI VITA 33
Artropatie infantili e malattie da accumulo lisosomiale 33
Otorhinolaryngological management in the Mucopolysaccharidoses 33
Terapia dietetica con una miscela di L-aminoacidi (OS 1 Milupa) in un caso di Metilmalonico aciduria 32
RECURRENT OF DOWN S./WOLF-HIRSCHHOM S.PHENOTYPE DUE TO A PARENTAL BALANCED TRANSLOCATION (4;21)(p16.3:q22.1) 32
Un caso di encefalopatia metilmalonica. 32
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 32
Severe Encephalomyopathy, external ophthalmoplegia and failure to thrive: report of a case. 31
MODALITA' DI ESORDIO CLINICO DELLA SCLEROSI TUBEROSA NEI PRIMI MESI DI VITA 31
Spectrum of inflammatory bowel involvement in Glycogen storage diasease type Ib. 31
Sclerosi Tuberosa e Sindrome di W.P.W- Associazione casuale? 31
EPILEPSY IN TYPE I GLYCOGENOSIS 31
EMBRIOFETOPATIA IN DUE MADRI ADOLESCENTI CON DIABETE MELLITO INSULINO-DIPENDENTE 31
Danno cerebrale in pazienti affetti da glicogenosi tipo I: identificazione ed ipotesi patogenetiche 31
L'intolleranza al fruttosio 31
Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. 31
Ritardo mentale e ipoplasie cerebellari 30
DISPLASIA GELIOFISICA E ANOMALIE CARDIACHE 30
Osteoporosi e metabolismo calcio/fosforo in pazienti affetti da glicogenosi tipo I 30
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 30
Ritardo mentale e ipoplasie cerebellari. 30
Epilepsy in inherited metabolic disorders: a pediatric series 30
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. 30
The Beckwith-Wiedemann Syndrome: genetic and epigenetic defects in bipartite cluster of imprintend genes. 29
Idrocefalo tetraventricolare acquisito in paziente affetta da sindrome di Smith-Lemli-Opitz 29
Epidemiologia delle malttie rare 29
Neurometabolic epilepsies: the experience at a one pediatric centre 29
Glicogenosi tipo I ed epilessia: descrizione di due casi 29
Lymphopenia and impaired lymphocyte proliferation cause increased risk for autoimmune disorders in patients affected by glycogen storage disease type 1B 29
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 29
Neurological outcome in three patients with combined methylmalonic aciduria and homocystinuria (CblC) 28
Hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type I 28
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)-related disorder 28
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 28
LESIONI MALFORMATIVE MULTIPLE ED ANOMALIA DI PETER: UNA NUOVA ASSOCIAZIONE 27
SINDROME DI BECKWITH-WIEDEMANN: DIFETTI GENETICI ED EPIGENETICI E CORRELAZIONE GENOTIPO-FENOTIPO 26
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. 26
Isovaleric acidemia 26
Totale 4.154
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Categoria #
all - tutte 22.036
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 22.036
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020123 0 0 0 0 0 0 0 0 2 13 33 75
2020/2021538 4 55 44 65 66 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
2024/20251.273 175 188 21 42 63 110 304 199 171 0 0 0
Totale 4.812