IRIS
DELLA CASA, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 1.931
EU - Europa 1.277
AS - Asia 646
AF - Africa 40
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 3.903
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Nazione #
US - Stati Uniti d'America 1.891
IT - Italia 422
SG - Singapore 359
UA - Ucraina 311
CN - Cina 271
DE - Germania 149
FI - Finlandia 125
NL - Olanda 94
IE - Irlanda 61
FR - Francia 42
CI - Costa d'Avorio 38
GB - Regno Unito 38
CA - Canada 34
SE - Svezia 18
IN - India 10
MX - Messico 6
BG - Bulgaria 4
ES - Italia 4
EU - Europa 3
VE - Venezuela 3
AU - Australia 2
BE - Belgio 2
CZ - Repubblica Ceca 2
IR - Iran 2
PL - Polonia 2
RU - Federazione Russa 2
MA - Marocco 1
MM - Myanmar 1
PE - Perù 1
RO - Romania 1
SA - Arabia Saudita 1
TN - Tunisia 1
TR - Turchia 1
TW - Taiwan 1
Totale 3.903
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Città #
Chandler 292
Singapore 289
Jacksonville 245
Millbury 129
Princeton 120
Ashburn 109
Amsterdam 90
Nanjing 90
Santa Clara 74
Naples 71
Boston 67
Wilmington 61
Kronberg 44
Woodbridge 39
Ottawa 29
Napoli 28
Nanchang 24
Shenyang 23
Hebei 22
Beijing 20
Norwalk 20
Jiaxing 18
Des Moines 16
Milan 14
Tianjin 14
Rome 12
Washington 12
Houston 11
Changsha 10
Falls Church 10
Lawrence 10
Ann Arbor 9
Orange 9
Augusta 8
Boardman 8
Munich 8
San Mateo 8
Kunming 7
Ningbo 7
Hangzhou 6
Helsinki 6
Taizhou 6
Dearborn 5
Dallas 4
Florence 4
Jinan 4
Rio Saliceto 4
Seattle 4
Serramazzoni 4
Sofia 4
Torino 4
Aversa 3
Bergamo 3
Changchun 3
Guangzhou 3
Los Angeles 3
Noci 3
Pune 3
Toronto 3
Vigía 3
Woodstock 3
Zhengzhou 3
Abbey Wood 2
Andover 2
Apodaca 2
Atlanta 2
Benalmádena 2
Brisbane 2
Brno 2
Cambridge 2
Canicattì 2
Dublin 2
Giarre 2
Indiana 2
Jesi 2
Leawood 2
Montesilvano Marina 2
Padova 2
Perugia 2
Premolo 2
San Nicola Manfredi 2
Sciacca 2
Simi Valley 2
Trieste 2
Turin 2
Varedo 2
Verona 2
Vignola 2
Waanrode 2
Zanè 2
Albignasego 1
Alzano 1
Ariano Irpino 1
Bacoli 1
Bastia 1
Bezons 1
Bologna 1
Brest 1
Camparada 1
Campoli Del Monte Taburno 1
Totale 2.231
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Nome #
SINDROME DISMORFICA ASSOCIATA A DUPLICAZIONE DE NOVO DEL BRACCIO CORTO DEL CROMOSOMA 2 102
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 78
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 64
Sindrome di West ed errori congeniti del metabolismo 62
microRNAs as biomarkers in Pompe disease 62
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 59
TRASLOCAZIONE COMPLESSA APPARENTEMENTE BILANCIATA 46,XX, t(2;7;8) IN UN PAZIENTE CON LIEVI NOTE DISMORFICHE E RITARDO DELLO SVILUPPO PSICOMOTORIO 58
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 58
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 57
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 55
null 53
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 52
Brain damage in glycogen storage disease type I 52
Deglutizione nei pazienti con disabilità grave, La disfagia nelle malattie metaboliche 52
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 51
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 51
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 51
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 50
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 47
Colorazione anomala e odore anomalo delle urine 47
Cardiomiopatia ipertrofica in un caso di sindrome di Berardinelli 46
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 45
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 44
CARNITINE DEFICIENCY IN A PATIENT WITH PROPIONIC ACIDAEMIA AND CARDIOMYOPATHY 43
COMPLICANZA POLMONARE LETALE IN PAZIENTE AFFETTO DA INTOLLERANZA ALLE PROTEINE CON LISINURIA 42
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 41
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 41
Sindrome di Williams Descrizione di 21 casi 40
A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome 40
3. Lesioni focali in pazienti affetti da glicogenosi tipo I 38
CARDIOMIOPATIA IN CORSO DI PROPIONICOACIDEMIA: RUOLO DELLA TERAPIA CON CARNITINA 38
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 37
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management 37
INNOVATIVE THERAPY WITH SODIUM-PHENYLBUTYRATE IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE 36
La S. di Parader Willi, La clinica in pediatria 36
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 35
ANOMALIE CARDIACHE NELLA SCLEROSI TUBEROSA 34
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 33
An emerging phenotype of proximal 11q deletions. 33
Bone metabolism impairment in glycogen storage disease type 1: a case control study 33
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 32
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 32
A case of galactosemia misdiagnosed as cow's milk intolerance 32
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 32
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 31
Studio ecocardiografico della funzione cardiaca in bambini affetti da ipotiroidismo congenito prima e dopo terapia sostitutiva ormonale. 31
EVOLUZIONE DELLA CARDIOMIOPATIA IPERTROFICA NEL NEONATO 31
Artropatie infantili e malattie da accumulo lisosomiale 31
Un caso di encefalopatia metilmalonica. 31
SINDROME MALFORMATIVA CON DELEZIONE TERMINALE DEL CROMOSOMA 13 (q12-qter) PRESENTE NEI FIBROBLASTI ED ASSENTE NEI LINFOCITI PERIFERICI 30
ANOMALIE CARDIACHE IN MALATTIE METABOLICHE 30
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 30
Sindrome di Williams: descrizione di 18 casi 29
DIFETTO DEL SETTO INTERVENTRICOLARE NEL PRIMO ANNO DI VITA 29
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder. 29
Associazione monosomia 22q e trisomia 19p: primo caso descritto in letteratura 29
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 29
MODALITA' DI ESORDIO CLINICO DELLA SCLEROSI TUBEROSA NEI PRIMI MESI DI VITA 28
Nefropatia e risposta alla terapia con ACE-inibitore in pazienti affetti da glicogenosi tipo I 28
Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study 28
Otorhinolaryngological management in the Mucopolysaccharidoses 28
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 28
Terapia dietetica con una miscela di L-aminoacidi (OS 1 Milupa) in un caso di Metilmalonico aciduria 27
Severe Encephalomyopathy, external ophthalmoplegia and failure to thrive: report of a case. 27
EMBRIOFETOPATIA IN DUE MADRI ADOLESCENTI CON DIABETE MELLITO INSULINO-DIPENDENTE 27
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 27
Osteoporosis in glycogen storage disease type 1 patients 27
RECURRENT OF DOWN S./WOLF-HIRSCHHOM S.PHENOTYPE DUE TO A PARENTAL BALANCED TRANSLOCATION (4;21)(p16.3:q22.1) 26
L'intolleranza al fruttosio 26
Autoimmune endocrine disorders in a patient affetcted by glycogen storage disease 1B: casual relationship between neutropenia and autoimmunity 26
Sindrome di West ed errori congeniti del metabolismo. 26
Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. 26
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 26
The Beckwith-Wiedemann Syndrome: genetic and epigenetic defects in bipartite cluster of imprintend genes. 25
Idrocefalo tetraventricolare acquisito in paziente affetta da sindrome di Smith-Lemli-Opitz 25
Spectrum of inflammatory bowel involvement in Glycogen storage diasease type Ib. 25
Sclerosi Tuberosa e Sindrome di W.P.W- Associazione casuale? 25
EPILEPSY IN TYPE I GLYCOGENOSIS 25
Danno cerebrale in pazienti affetti da glicogenosi tipo I: identificazione ed ipotesi patogenetiche 25
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 25
Glicogenosi tipo I ed epilessia: descrizione di due casi 25
SINDROME DI BECKWITH-WIEDEMANN: DIFETTI GENETICI ED EPIGENETICI E CORRELAZIONE GENOTIPO-FENOTIPO 24
DISPLASIA GELIOFISICA E ANOMALIE CARDIACHE 24
Osteoporosi e metabolismo calcio/fosforo in pazienti affetti da glicogenosi tipo I 24
Epidemiologia delle malttie rare 24
Neurometabolic epilepsies: the experience at a one pediatric centre 24
Lymphopenia and impaired lymphocyte proliferation cause increased risk for autoimmune disorders in patients affected by glycogen storage disease type 1B 24
Ritardo mentale e ipoplasie cerebellari. 24
Epilepsy in inherited metabolic disorders: a pediatric series 24
Ritardo mentale e ipoplasie cerebellari 23
LESIONI MALFORMATIVE MULTIPLE ED ANOMALIA DI PETER: UNA NUOVA ASSOCIAZIONE 23
Terapia dietetica con una miscela di L-aminoacidi (OS 1 Milupa) in un caso di metilmalonicoaciduria 23
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. 22
Hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type I 22
Epidemiologia della malattie metaboliche ereditarie in Campania 21
Malformazioni e rischio ambientale 21
Neurological outcome in three patients with combined methylmalonic aciduria and homocystinuria (CblC) 21
Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia 21
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. 21
Un caso di malformazioni congenite multiple e ritardo mentale con caratteristiche della sindrome di Aicardi 21
Totale 3.513
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Categoria #
all - tutte 18.264
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 18.264
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020210 0 0 0 0 56 9 17 5 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
2024/2025489 175 188 21 42 63 0 0 0 0 0 0 0
Totale 4.028