IRIS
STRISCIUGLIO, PIETRO
 Distribuzione geografica
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Continente #
AS - Asia 5.927
NA - Nord America 4.889
EU - Europa 3.684
SA - Sud America 888
AF - Africa 134
OC - Oceania 6
Totale 15.528
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Nazione #
US - Stati Uniti d'America 4.682
SG - Singapore 2.828
RU - Federazione Russa 1.680
CN - Cina 1.058
VN - Vietnam 925
BR - Brasile 718
HK - Hong Kong 553
IT - Italia 497
DE - Germania 316
FR - Francia 276
UA - Ucraina 249
FI - Finlandia 205
NL - Olanda 126
CA - Canada 118
GB - Regno Unito 109
IN - India 78
BD - Bangladesh 75
JP - Giappone 75
IE - Irlanda 64
AR - Argentina 58
IQ - Iraq 49
MX - Messico 48
PH - Filippine 40
KR - Corea 34
ZA - Sudafrica 34
TR - Turchia 32
CO - Colombia 31
EC - Ecuador 26
ES - Italia 25
PL - Polonia 25
CI - Costa d'Avorio 24
PK - Pakistan 24
TH - Thailandia 24
AT - Austria 19
ID - Indonesia 19
SE - Svezia 17
CL - Cile 15
TW - Taiwan 15
PE - Perù 14
KE - Kenya 13
UZ - Uzbekistan 12
BE - Belgio 11
EG - Egitto 11
JO - Giordania 11
PT - Portogallo 10
PY - Paraguay 10
VE - Venezuela 10
AZ - Azerbaigian 9
JM - Giamaica 9
LT - Lituania 9
SA - Arabia Saudita 9
NP - Nepal 8
TN - Tunisia 8
DZ - Algeria 7
ET - Etiopia 7
KZ - Kazakistan 7
BG - Bulgaria 6
LB - Libano 6
AE - Emirati Arabi Uniti 5
IL - Israele 5
MA - Marocco 5
RO - Romania 5
TT - Trinidad e Tobago 5
AU - Australia 4
CH - Svizzera 4
GR - Grecia 4
HN - Honduras 4
MY - Malesia 4
NI - Nicaragua 4
NO - Norvegia 4
PS - Palestinian Territory 4
UY - Uruguay 4
AL - Albania 3
AO - Angola 3
CZ - Repubblica Ceca 3
DO - Repubblica Dominicana 3
HR - Croazia 3
NG - Nigeria 3
AM - Armenia 2
BB - Barbados 2
BO - Bolivia 2
BW - Botswana 2
BY - Bielorussia 2
BZ - Belize 2
CD - Congo 2
CR - Costa Rica 2
DK - Danimarca 2
GE - Georgia 2
GT - Guatemala 2
HU - Ungheria 2
KG - Kirghizistan 2
LC - Santa Lucia 2
LK - Sri Lanka 2
LU - Lussemburgo 2
ML - Mali 2
MN - Mongolia 2
MZ - Mozambico 2
OM - Oman 2
PA - Panama 2
SY - Repubblica araba siriana 2
Totale 15.501
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Città #
Singapore 1.238
San Jose 699
Hong Kong 545
Moscow 366
Ashburn 290
Ho Chi Minh City 280
Millbury 244
Beijing 243
Jacksonville 240
Chandler 231
Santa Clara 204
The Dalles 195
Hanoi 182
Lauterbourg 173
Princeton 169
Los Angeles 161
Nanjing 131
Hefei 90
Amsterdam 88
Naples 85
Buffalo 84
Boston 81
Wilmington 76
Dallas 61
New York 61
Ottawa 59
Munich 58
Tokyo 57
Nanchang 50
Redondo Beach 47
São Paulo 44
Woodbridge 43
Haiphong 39
Seattle 36
Da Nang 33
Napoli 33
Frankfurt am Main 30
Des Moines 29
Tianjin 29
Mexico City 28
Orem 28
Hebei 27
Shenyang 27
Brooklyn 26
Falls Church 26
Chicago 24
Nuremberg 24
Kronberg 23
Norwalk 23
Rome 22
Warsaw 22
Denver 21
Lawrence 21
Montreal 20
Belo Horizonte 19
Hải Dương 19
Turku 19
Atlanta 18
Chennai 18
Council Bluffs 18
Helsinki 18
Rio de Janeiro 17
Baghdad 16
Biên Hòa 16
Can Tho 16
Johannesburg 16
Changsha 15
Kunming 15
London 15
Milan 15
Seoul 15
Houston 14
Phoenix 14
Toronto 14
Falkenstein 13
Ankara 12
Buenos Aires 12
Nairobi 12
Shanghai 12
Washington 12
Amman 11
Bangkok 11
Brasília 11
Jiaxing 11
Nürnberg 11
Recife 11
Tashkent 11
Catania 10
Curitiba 10
Porto Alegre 10
Pune 10
San Francisco 10
Augusta 9
Boardman 9
Bogotá 9
Bắc Ninh 9
Bến Tre 9
Charlotte 9
Fremont 9
Hangzhou 9
Totale 7.765
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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 296
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 194
Hypermethioninemia in Campania: Results from 10 years of newborn screening 159
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 142
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 138
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 134
Which cystography in the diagnosis and grading of vesicoureteral reflux? 134
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 134
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report 131
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 130
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 129
Primrose syndrome: Characterization of the phenotype in 42 patients 129
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 128
Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach 126
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 126
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 126
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 125
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 124
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. 124
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 124
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 122
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 120
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 118
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 117
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 114
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. 113
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. 113
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 112
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 112
Malattia di Tay-Sachs con elevata attività residua di esosoaminidasi A in leucociti e fibroblasti. 111
Large neutral amino acids (Lnaas) supplementation improves neuropsychological performances in adult patients with phenylketonuria 111
Celiac disease: predictors of compliance with a gluten-free diet in adolescents and young adults. 110
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? 109
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 109
Delayed gastric emptying: a novel gastrointestinal finding in Turner syndrome 108
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 104
A specific serum lipid signature characterises patients with glycogen storage disease type Ia 104
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. 102
Prevalence and natural history of gastroesophageal reflux: pediatric prospective survey 100
Malattia di Tay-Sachs con elevata affinità residua di esosaminidasi A in leucociti e fibroblasti 100
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 99
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. 99
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) 99
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index. 98
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods 98
Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome. 98
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 97
The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies 97
Successful management of neonatal renal venous thrombosis 96
Early detection of podiatric anomalies in children with Down syndrome. 95
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity. 94
Down syndrome and breastfeeding 94
Hypertension and obesity in Italian school children: The role of diet, lifestyle and family history 94
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 94
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 93
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 93
ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA. EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM. 93
Normal serum levels of vitamin B12 and folic acid in children with phenylketonuria. 93
Le alterazioni scheletriche dell'omocistinuria in età pediatrica. 93
Diagnosi prenatale di mucopolisaccaridosi tipo II 93
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 93
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 92
ERYTHEMATOUS ERUPTION WITH LINEAR VESCICULATION AND EOSINOPHILIA AT BIRTH 89
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 89
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy 89
Cardiac manifestations in the mild form of galactosialidosis. 88
Evidence of polyglandular involvement in Niemann-Pick disease type B. 84
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS 84
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-β-sintasi in Italia: uno studio multicentrico 83
Short fourth metacarpal in homocystinuria. 83
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 83
Ring chromosome 10 (p15q26)in a patient with unipolar affective disorder, multiple minor anomalies and mental retardation 82
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 81
Lysinuric protein intolerance: Possible genetic heterogeneity? 80
Antral nodularity and positive CagA serology are distinct and relevant markers of severe gastric inflammation in children with Helicobacter pilori infection. 79
Ultrasonographic detection ofarterial disease in treated homocystinuria 79
De Falco FA, Strisciuglio P, Sannolo N, Bartiromo U, Mundo P, Di Domenico G. 78
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-beta-sintasi in Italia: uno studio multicentrico. 78
Structure of the SLC7A7 gene and mutational analysis of patients affected by Lysinuric Protein Intolerance. 77
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene. 77
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation 76
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Freedreich ataxia and familial hypertrophic cardiomyopathy 76
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 76
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 76
A triphalangeal thumb associated with otological abnormalities. A new syndrome?] 76
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 75
Molecular heterogeneity of carbonic anhydrase II deficiency in Italy 75
Rare compound heterozygosity for IVS2+1G>A and R170P in an Italian patient with Gaucher disease type I 75
Antral nodularity identifies children infected with Helicobacter Pylori with higher grade of gastric inflammation. 75
Prevalence of digital arches in children with abdominal pain and constipation 74
Detection of helicobacter pylori in stools specimens by non-invasive antigen enzyme immunoassay in children: multicentre italian study. 73
Nuove displasie scheletriche su base dismetabolica: condrodisplasie puntate e osteopetrosi. 73
Echo-Doppler abnormalities in mucopolysaccharide storage diseases 72
A novel mutation in a patient with insulin like growth factor 1 (IGF 1)deficiency 71
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 71
Radioimmunoiassay to detect antitransglutaminase autoantibodies is the most sensitive specific screening method for celiac disease. 70
Expression of proinflammatory and Th1 but not Th2 citokines is enhanced in gastric mucosa of Helicobacter pilori infected children. 70
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency. 70
detection of helicobacter pylori in stool specimens by non-invasive antigen anzyme immunoassay in children: multicentre italian study 69
Delayed gastric emptying a novel gastrointestinal finding in Turner syndrome 68
Totale 10.101
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Categoria #
all - tutte 55.139
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 55.139
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2024/20254.324 261 350 18 56 68 173 455 252 479 548 1.265 399
2025/20267.300 870 598 728 637 1.227 282 756 478 1.004 363 144 213
2026/2027154 154 0 0 0 0 0 0 0 0 0 0 0
Totale 15.664