IRIS
STRISCIUGLIO, PIETRO
 Distribuzione geografica
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Continente #
AS - Asia 5.964
NA - Nord America 5.379
EU - Europa 3.727
SA - Sud America 894
Continente sconosciuto - Info sul continente non disponibili 138
AF - Africa 136
OC - Oceania 6
Totale 16.244
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Nazione #
US - Stati Uniti d'America 5.143
SG - Singapore 2.834
RU - Federazione Russa 1.680
CN - Cina 1.062
VN - Vietnam 929
BR - Brasile 721
HK - Hong Kong 556
IT - Italia 536
DE - Germania 317
FR - Francia 277
UA - Ucraina 249
FI - Finlandia 205
CA - Canada 134
NL - Olanda 126
GB - Regno Unito 110
BD - Bangladesh 89
IN - India 79
JP - Giappone 75
IE - Irlanda 64
AR - Argentina 58
IQ - Iraq 49
MX - Messico 48
PH - Filippine 42
KR - Corea 34
ZA - Sudafrica 34
TR - Turchia 32
CO - Colombia 31
EC - Ecuador 28
ES - Italia 25
PL - Polonia 25
CI - Costa d'Avorio 24
PK - Pakistan 24
TH - Thailandia 24
ID - Indonesia 21
AT - Austria 19
SE - Svezia 17
CL - Cile 15
TW - Taiwan 15
JM - Giamaica 14
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
LT - Lituania 9
SA - Arabia Saudita 9
TN - Tunisia 9
KZ - Kazakistan 8
NP - Nepal 8
DZ - Algeria 7
ET - Etiopia 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
UY - Uruguay 5
AU - Australia 4
CH - Svizzera 4
CR - Costa Rica 4
GR - Grecia 4
HN - Honduras 4
MY - Malesia 4
NI - Nicaragua 4
NO - Norvegia 4
PS - Palestinian Territory 4
AL - Albania 3
AO - Angola 3
CZ - Repubblica Ceca 3
DO - Repubblica Dominicana 3
GT - Guatemala 3
HR - Croazia 3
LC - Santa Lucia 3
NG - Nigeria 3
PR - Porto Rico 3
AM - Armenia 2
BB - Barbados 2
BO - Bolivia 2
BW - Botswana 2
BY - Bielorussia 2
BZ - Belize 2
CD - Congo 2
DK - Danimarca 2
GE - Georgia 2
HU - Ungheria 2
KG - Kirghizistan 2
LK - Sri Lanka 2
LU - Lussemburgo 2
ML - Mali 2
MN - Mongolia 2
MZ - Mozambico 2
OM - Oman 2
PA - Panama 2
Totale 16.074
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Città #
Singapore 1.240
San Jose 819
Hong Kong 548
Moscow 366
Ashburn 309
Ho Chi Minh City 282
Beijing 245
Millbury 244
Jacksonville 240
Chandler 231
Santa Clara 220
The Dalles 195
Hanoi 183
Lauterbourg 173
Princeton 169
Los Angeles 165
Nanjing 131
Phoenix 104
Council Bluffs 95
Hefei 90
Amsterdam 88
Naples 87
Buffalo 85
Boston 83
Wilmington 76
New York 63
Dallas 62
Ottawa 59
Munich 58
Tokyo 57
Nanchang 51
Redondo Beach 47
São Paulo 46
Woodbridge 43
Haiphong 39
Seattle 37
Da Nang 33
Napoli 33
Frankfurt am Main 30
Rome 30
Des Moines 29
Orem 29
Tianjin 29
Mexico City 28
Brooklyn 27
Hebei 27
Shenyang 27
Falls Church 26
Chicago 25
Nuremberg 24
Kronberg 23
Milan 23
Norwalk 23
Montreal 22
Warsaw 22
Denver 21
Lawrence 21
Atlanta 19
Belo Horizonte 19
Hải Dương 19
Turku 19
Chennai 18
Helsinki 18
London 18
Rio de Janeiro 17
Baghdad 16
Biên Hòa 16
Can Tho 16
Johannesburg 16
Changsha 15
Kunming 15
Seoul 15
Houston 14
Toronto 14
Falkenstein 13
Ankara 12
Brasília 12
Buenos Aires 12
Nairobi 12
Shanghai 12
Washington 12
Amman 11
Bangkok 11
Catania 11
Jiaxing 11
Nürnberg 11
Recife 11
San Francisco 11
Tashkent 11
Augusta 10
Charlotte 10
Curitiba 10
Porto Alegre 10
Pune 10
Boardman 9
Bogotá 9
Bắc Ninh 9
Bến Tre 9
Fremont 9
Guayaquil 9
Totale 8.143
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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 304
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 200
Primrose syndrome: Characterization of the phenotype in 42 patients 173
Hypermethioninemia in Campania: Results from 10 years of newborn screening 164
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 146
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 142
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 140
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 139
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report 138
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 137
Which cystography in the diagnosis and grading of vesicoureteral reflux? 135
Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach 133
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 132
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 132
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 130
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 130
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 129
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 129
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 128
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. 127
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 124
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 124
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 123
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 121
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. 119
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 118
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. 118
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 116
Delayed gastric emptying: a novel gastrointestinal finding in Turner syndrome 116
Large neutral amino acids (Lnaas) supplementation improves neuropsychological performances in adult patients with phenylketonuria 115
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 114
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? 114
Celiac disease: predictors of compliance with a gluten-free diet in adolescents and young adults. 113
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 113
Malattia di Tay-Sachs con elevata attività residua di esosoaminidasi A in leucociti e fibroblasti. 112
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 110
A specific serum lipid signature characterises patients with glycogen storage disease type Ia 108
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 105
ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA. EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM. 105
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) 105
Prevalence and natural history of gastroesophageal reflux: pediatric prospective survey 104
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. 104
The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies 104
Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome. 103
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 101
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. 101
Malattia di Tay-Sachs con elevata affinità residua di esosaminidasi A in leucociti e fibroblasti 101
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods 100
Hypertension and obesity in Italian school children: The role of diet, lifestyle and family history 100
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 100
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 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. 99
Successful management of neonatal renal venous thrombosis 99
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 97
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 96
Early detection of podiatric anomalies in children with Down syndrome. 96
Normal serum levels of vitamin B12 and folic acid in children with phenylketonuria. 96
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity. 96
Down syndrome and breastfeeding 96
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 96
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 95
Diagnosi prenatale di mucopolisaccaridosi tipo II 94
Le alterazioni scheletriche dell'omocistinuria in età pediatrica. 93
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy 93
Cardiac manifestations in the mild form of galactosialidosis. 91
ERYTHEMATOUS ERUPTION WITH LINEAR VESCICULATION AND EOSINOPHILIA AT BIRTH 89
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS 89
Evidence of polyglandular involvement in Niemann-Pick disease type B. 88
Short fourth metacarpal in homocystinuria. 86
Ring chromosome 10 (p15q26)in a patient with unipolar affective disorder, multiple minor anomalies and mental retardation 85
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-β-sintasi in Italia: uno studio multicentrico 85
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 84
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 82
Lysinuric protein intolerance: Possible genetic heterogeneity? 81
Antral nodularity and positive CagA serology are distinct and relevant markers of severe gastric inflammation in children with Helicobacter pilori infection. 80
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 80
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene. 80
Ultrasonographic detection ofarterial disease in treated homocystinuria 80
De Falco FA, Strisciuglio P, Sannolo N, Bartiromo U, Mundo P, Di Domenico G. 79
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-beta-sintasi in Italia: uno studio multicentrico. 79
Structure of the SLC7A7 gene and mutational analysis of patients affected by Lysinuric Protein Intolerance. 78
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation 78
A triphalangeal thumb associated with otological abnormalities. A new syndrome?] 78
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 77
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Freedreich ataxia and familial hypertrophic cardiomyopathy 77
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 77
Molecular heterogeneity of carbonic anhydrase II deficiency in Italy 76
Rare compound heterozygosity for IVS2+1G>A and R170P in an Italian patient with Gaucher disease type I 76
Antral nodularity identifies children infected with Helicobacter Pylori with higher grade of gastric inflammation. 76
Prevalence of digital arches in children with abdominal pain and constipation 75
Detection of helicobacter pylori in stools specimens by non-invasive antigen enzyme immunoassay in children: multicentre italian study. 74
Echo-Doppler abnormalities in mucopolysaccharide storage diseases 74
Nuove displasie scheletriche su base dismetabolica: condrodisplasie puntate e osteopetrosi. 74
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 73
A novel mutation in a patient with insulin like growth factor 1 (IGF 1)deficiency 72
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency. 72
Expression of proinflammatory and Th1 but not Th2 citokines is enhanced in gastric mucosa of Helicobacter pilori infected children. 71
Delayed gastric emptying a novel gastrointestinal finding in Turner syndrome 70
detection of helicobacter pylori in stool specimens by non-invasive antigen anzyme immunoassay in children: multicentre italian study 70
Variable clinical presentation of carbonic anhydrase deficiency:evidence for heterogeneity? 70
Totale 10.470
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Categoria #
all - tutte 58.985
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 58.985
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022751 0 0 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
2026/2027734 268 221 245 0 0 0 0 0 0 0 0 0
Totale 16.244