IRIS
STRISCIUGLIO, PIETRO
 Distribuzione geografica
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Continente #
NA - Nord America 2.414
AS - Asia 1.623
EU - Europa 1.513
SA - Sud America 163
AF - Africa 29
Totale 5.742
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Nazione #
US - Stati Uniti d'America 2.343
SG - Singapore 893
IT - Italia 380
CN - Cina 373
HK - Hong Kong 295
UA - Ucraina 232
DE - Germania 208
FI - Finlandia 185
RU - Federazione Russa 183
BR - Brasile 127
NL - Olanda 111
CA - Canada 66
IE - Irlanda 62
GB - Regno Unito 54
FR - Francia 32
CI - Costa d'Avorio 23
TR - Turchia 15
CO - Colombia 13
IN - India 11
PT - Portogallo 10
AR - Argentina 9
BE - Belgio 9
ES - Italia 9
JP - Giappone 9
SE - Svezia 9
CL - Cile 7
AT - Austria 6
PE - Perù 6
MX - Messico 5
CH - Svizzera 4
GR - Grecia 4
VN - Vietnam 4
IL - Israele 3
IQ - Iraq 3
PK - Pakistan 3
PL - Polonia 3
AL - Albania 2
AZ - Azerbaigian 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
HR - Croazia 2
LB - Libano 2
PH - Filippine 2
RO - Romania 2
SA - Arabia Saudita 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
BD - Bangladesh 1
BG - Bulgaria 1
EC - Ecuador 1
GE - Georgia 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
LT - Lituania 1
LU - Lussemburgo 1
NG - Nigeria 1
NO - Norvegia 1
UZ - Uzbekistan 1
Totale 5.742
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Città #
Singapore 486
Hong Kong 295
Millbury 244
Jacksonville 237
Chandler 230
Santa Clara 179
Princeton 169
Nanjing 130
Amsterdam 81
Ashburn 79
Wilmington 73
Boston 70
Naples 66
Ottawa 57
Beijing 51
Nanchang 49
Woodbridge 43
Seattle 34
Napoli 33
Des Moines 28
Hebei 27
Falls Church 26
Shenyang 26
Kronberg 23
Norwalk 23
Tianjin 22
Lawrence 21
Helsinki 17
Munich 15
Kunming 14
Nuremberg 13
Jiaxing 11
Nürnberg 11
Falkenstein 10
Milan 10
Catania 9
Changsha 9
The Dalles 9
Augusta 8
Formia 8
Pune 8
Rome 8
Washington 8
Fremont 7
Orange 7
Recife 7
Frankfurt am Main 6
Groningen 6
Lima 6
London 6
Moscow 6
Redmond 6
Redwood City 6
Boardman 5
Buenos Aires 5
Campodarsego 5
Hangzhou 5
Marcianise 5
Medellín 5
Ann Arbor 4
Columbus 4
Dallas 4
Dearborn 4
Dong Ket 4
Dublin 4
Franco da Rocha 4
Houston 4
Indiana 4
Mexico City 4
Pietragalla 4
Rio de Janeiro 4
San Mateo 4
Somerville 4
Thessaloniki 4
Toronto 4
Ankara 3
Baghdad 3
Bertioga 3
Bogotá 3
Brussels 3
Caserta 3
Corato 3
Florence 3
Hasselt 3
Islamabad 3
Itabuna 3
Maceió 3
Midoricho 3
Novo Hamburgo 3
Ossona 3
Padova 3
Passo Fundo 3
Porto 3
Santiago 3
Serramazzoni 3
Shanghai 3
São Paulo 3
Abbey Wood 2
Avellino 2
Baku 2
Totale 3.199
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Nome #
Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study 204
Which cystography in the diagnosis and grading of vesicoureteral reflux? 101
Malattia di Tay-Sachs con elevata affinità residua di esosaminidasi A in leucociti e fibroblasti 70
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 68
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net 62
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 59
Hypermethioninemia in Campania: Results from 10 years of newborn screening 59
Malattia di Tay-Sachs con elevata attività residua di esosoaminidasi A in leucociti e fibroblasti. 56
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 56
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 53
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-β-sintasi in Italia: uno studio multicentrico 51
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 51
ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA. EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM. 50
De Falco FA, Strisciuglio P, Sannolo N, Bartiromo U, Mundo P, Di Domenico G. 50
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 46
Celiac disease: predictors of compliance with a gluten-free diet in adolescents and young adults. 46
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 46
Antral nodularity identifies children infected with Helicobacter Pylori with higher grade of gastric inflammation. 45
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 45
Novelty in hypertension in children and adolescents: focus on hypertension during the first year of life, use and interpretation of ambulatory blood pressure monitoring, role of physical activity in prevention and treatment, simple carbohydrates and uric acid as risk factors 44
Lysinuric protein intolerance: Possible genetic heterogeneity? 43
A triphalangeal thumb associated with otological abnormalities. A new syndrome?] 42
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 42
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 41
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 41
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods 41
Antral nodularity and positive CagA serology are distinct and relevant markers of severe gastric inflammation in children with Helicobacter pilori infection. 40
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 40
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 39
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report 39
A novel mutation in a patient with insulin like growth factor 1 (IGF 1)deficiency 38
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 38
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. 38
Down syndrome and breastfeeding 38
Diagnosi prenatale di mucopolisaccaridosi tipo II 38
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 38
Erratum: Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids (European Journal of Clinical Nutrition (2017) 71:1 (51-55) DOI: 10.1038/ejcn.2016.166) 38
Carbonic anhydrase II deficiency syndrome)osteopetrosis with renal tubular acidosis and brain calcification):Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation 37
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 37
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. 37
Successful management of neonatal renal venous thrombosis 37
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation 35
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? 35
Large neutral amino acids (Lnaas) supplementation improves neuropsychological performances in adult patients with phenylketonuria 35
Primrose syndrome: Characterization of the phenotype in 42 patients 35
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency 34
Bone changes in homocystinuria in childhood 34
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. 34
Cardiac manifestations in the mild form of galactosialidosis. 34
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-beta-sintasi in Italia: uno studio multicentrico. 34
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 33
Molecular heterogeneity of carbonic anhydrase II deficiency in Italy 33
An italian multicentric protocol on x-Linked agammaglobulinemia: the natural history of 125 patients 33
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. 33
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 33
Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach 32
Evidence favouring the gastrooral route in the trasmission of helicobacter pilori infection in children. 32
Prevalence of digital arches in children with abdominal pain and constipation 32
Hypertension and obesity in Italian school children: The role of diet, lifestyle and family history 32
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 31
Variable clinical presentation of carbonic anhydrase deficiency:evidence for heterogeneity? 31
Sindrome di Coffin-Lowry associata a sordità neurosensorial 31
Agenesia del corpo calloso in due fratelli 31
Kidney transplantation in patients with Fabry disease 31
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. 31
Nuove displasie scheletriche su base dismetabolica: condrodisplasie puntate e osteopetrosi. 31
Dual vs. triple therapy for childhood Helicobacter pylori gastritis: a double- blind randomized multicentre trial. 30
Delayed gastric emptying a novel gastrointestinal finding in Turner syndrome 30
detection of helicobacter pylori in stool specimens by non-invasive antigen anzyme immunoassay in children: multicentre italian study 30
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Freedreich ataxia and familial hypertrophic cardiomyopathy 30
Detection of helicobacter pylori in stools specimens by non-invasive antigen enzyme immunoassay in children: multicentre italian study. 30
Galactosialidosis 30
Le alterazioni scheletriche dell'omocistinuria in età pediatrica. 30
Ipertirosinemia tipo II e ipoplasia del verme cerebellare 30
Approccio diagnostico alle malattie lisosomiali 30
Epigallocatechin-3-gallate plus omega-3 restores the mitochondrial complex i and f0 f1-atp synthase activities in pbmcs of young children with down syndrome: A pilot study of safety and efficacy 30
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 30
Cytosolic carbonic anhydrase activity in chronic myeloid disorders with different clinical phenotype 29
Structure of the SLC7A7 gene and mutational analysis of patients affected by Lysinuric Protein Intolerance. 29
Ring chromosome 10 (p15q26)in a patient with unipolar affective disorder, multiple minor anomalies and mental retardation 29
Radioimmunoiassay to detect antitransglutaminase autoantibodies is the most sensitive specific screening method for celiac disease. 29
Helicobacter Pylori infection in children with celiac disease: prevalence and clinico-pathological features 29
Expression of proinflammatory and Th1 but not Th2 citokines is enhanced in gastric mucosa of Helicobacter pilori infected children. 29
Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in italian family 28
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 28
Testing for serum IgG antibodies to Helicobacter pylori cytotoxin-associated protein detects children with higher grades of gastric inflammation. 28
Early detection of podiatric anomalies in children with Down syndrome. 28
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. 28
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group 28
Echo-Doppler abnormalities in mucopolysaccharide storage diseases 28
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 28
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 28
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 28
Seven novel mutation in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis 27
Severe cardiac anomalies in sibs with Larsen syndrome. 27
Normal serum levels of vitamin B12 and folic acid in children with phenylketonuria. 27
The quality of life of children and adolescents with X-linked agammaglobulinemia 27
Ultrasonographic detection ofarterial disease in treated homocystinuria 27
ERYTHEMATOUS ERUPTION WITH LINEAR VESCICULATION AND EOSINOPHILIA AT BIRTH 27
Sindrome di Rett: una nuova sindrome neurologica legata al sesso. 27
Totale 3.877
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Categoria #
all - tutte 30.355
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 30.355
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020155 0 0 0 0 0 0 0 0 9 23 63 60
2020/2021446 26 38 52 44 45 57 44 10 45 7 65 13
2021/2022754 1 2 10 5 4 11 9 46 83 33 108 442
2022/2023764 190 25 19 39 84 81 10 54 100 93 49 20
2023/2024730 43 106 88 39 50 37 16 66 18 36 175 56
2024/20251.988 261 350 18 56 68 173 455 252 355 0 0 0
Totale 5.874