STRISCIUGLIO, PIETRO
 Distribuzione geografica
Continente #
NA - Nord America 2.032
EU - Europa 1.188
AS - Asia 714
SA - Sud America 47
AF - Africa 24
Totale 4.005
Nazione #
US - Stati Uniti d'America 1.969
CN - Cina 355
IT - Italia 324
SG - Singapore 319
UA - Ucraina 232
FI - Finlandia 171
DE - Germania 167
NL - Olanda 104
CA - Canada 63
IE - Irlanda 62
GB - Regno Unito 49
FR - Francia 29
CI - Costa d'Avorio 23
BR - Brasile 22
CO - Colombia 11
IN - India 11
TR - Turchia 10
ES - Italia 9
JP - Giappone 9
SE - Svezia 9
PT - Portogallo 7
BE - Belgio 6
PE - Perù 6
CL - Cile 5
GR - Grecia 4
VN - Vietnam 4
AR - Argentina 3
CH - Svizzera 3
PK - Pakistan 3
PL - Polonia 3
CZ - Repubblica Ceca 2
HR - Croazia 2
RO - Romania 2
SA - Arabia Saudita 2
AL - Albania 1
BG - Bulgaria 1
IL - Israele 1
KE - Kenya 1
LU - Lussemburgo 1
Totale 4.005
Città #
Millbury 244
Jacksonville 237
Chandler 230
Singapore 212
Princeton 169
Nanjing 130
Amsterdam 79
Ashburn 77
Wilmington 73
Boston 70
Ottawa 55
Beijing 51
Nanchang 49
Naples 47
Woodbridge 43
Santa Clara 41
Napoli 33
Des Moines 28
Hebei 27
Falls Church 26
Shenyang 26
Kronberg 23
Norwalk 23
Tianjin 22
Lawrence 21
Kunming 14
Jiaxing 11
Nürnberg 11
Catania 9
Changsha 9
Augusta 8
Formia 8
Pune 8
Washington 8
Fremont 7
Orange 7
Seattle 7
Lima 6
Milan 6
Redmond 6
Redwood City 6
Boardman 5
Campodarsego 5
Hangzhou 5
Marcianise 5
Rome 5
Ann Arbor 4
Dearborn 4
Dong Ket 4
Dublin 4
Franco da Rocha 4
Frankfurt am Main 4
Houston 4
Indiana 4
Medellín 4
Pietragalla 4
San Mateo 4
Thessaloniki 4
Bogotá 3
Buenos Aires 3
Caserta 3
Corato 3
Groningen 3
Hasselt 3
Helsinki 3
Islamabad 3
Itabuna 3
Maceió 3
Midoricho 3
Novo Hamburgo 3
Padova 3
Porto 3
Santiago 3
Serramazzoni 3
Shanghai 3
Toronto 3
Abbey Wood 2
Ankara 2
Avellino 2
Balneário Camboriú 2
Barbate 2
Bayburt 2
Beylikduzu 2
Casoria 2
Chapel Hill 2
Coimbra 2
Concord 2
Cúcuta 2
Dallas 2
Deiva Marina 2
Donostia / San Sebastian 2
Edinburgh 2
Ercolano 2
Fayetteville 2
Florence 2
Itabira 2
La Bañeza 2
Leawood 2
London 2
Los Angeles 2
Totale 2.342
Nome #
Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study 165
Which cystography in the diagnosis and grading of vesicoureteral reflux? 93
Malattia di Tay-Sachs con elevata affinità residua di esosaminidasi A in leucociti e fibroblasti 62
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 51
Malattia di Tay-Sachs con elevata attività residua di esosoaminidasi A in leucociti e fibroblasti. 47
ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA. EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM. 46
Hypermethioninemia in Campania: Results from 10 years of newborn screening 46
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 43
De Falco FA, Strisciuglio P, Sannolo N, Bartiromo U, Mundo P, Di Domenico G. 43
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 41
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 41
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 41
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 39
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-β-sintasi in Italia: uno studio multicentrico 39
Lysinuric protein intolerance: Possible genetic heterogeneity? 37
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 37
Antral nodularity identifies children infected with Helicobacter Pylori with higher grade of gastric inflammation. 36
A triphalangeal thumb associated with otological abnormalities. A new syndrome?] 34
Celiac disease: predictors of compliance with a gluten-free diet in adolescents and young adults. 33
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. 33
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 32
Antral nodularity and positive CagA serology are distinct and relevant markers of severe gastric inflammation in children with Helicobacter pilori infection. 32
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 32
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 32
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 31
FOLLOW-UP DI UN PAZIENTE AFFETTO DA GALATTOSIALIDOSI INFANTILE TARDIVA 31
A novel mutation in a patient with insulin like growth factor 1 (IGF 1)deficiency 30
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 29
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 29
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 28
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods 28
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 28
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation 27
An italian multicentric protocol on x-Linked agammaglobulinemia: the natural history of 125 patients 27
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. 27
Successful management of neonatal renal venous thrombosis 27
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 27
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 26
Ipertirosinemia tipo II e ipoplasia del verme cerebellare 26
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 26
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) 26
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report 26
Molecular heterogeneity of carbonic anhydrase II deficiency in Italy 25
Cardiac manifestations in the mild form of galactosialidosis. 25
Diagnosi prenatale di mucopolisaccaridosi tipo II 25
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-beta-sintasi in Italia: uno studio multicentrico. 25
Bone changes in homocystinuria in childhood 24
Down syndrome and breastfeeding 24
Agenesia del corpo calloso in due fratelli 24
Approccio diagnostico alle malattie lisosomiali 24
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 24
Dual vs. triple therapy for childhood Helicobacter pylori gastritis: a double- blind randomized multicentre trial. 23
detection of helicobacter pylori in stool specimens by non-invasive antigen anzyme immunoassay in children: multicentre italian study 23
Variable clinical presentation of carbonic anhydrase deficiency:evidence for heterogeneity? 23
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. 23
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. 23
Cytosolic carbonic anhydrase activity in chronic myeloid disorders with different clinical phenotype 22
Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in italian family 22
Succesful DNA-based Prenatal diagnosis of the 728+1gt mutation at the Exon 6 intron junction in the carbonic anhydrase II gene 22
Ring chromosome 10 (p15q26)in a patient with unipolar affective disorder, multiple minor anomalies and mental retardation 22
Evidence favouring the gastrooral route in the trasmission of helicobacter pilori infection in children. 22
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Freedreich ataxia and familial hypertrophic cardiomyopathy 22
Rare compound heterozygosity for IVS2+1G>A and R170P in an Italian patient with Gaucher disease type I 22
Galactosialidosis 22
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? 22
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. 22
Sindrome di Coffin-Lowry associata a sordità neurosensorial 22
ERYTHEMATOUS ERUPTION WITH LINEAR VESCICULATION AND EOSINOPHILIA AT BIRTH 22
Radioimmunoiassay to detect antitransglutaminase autoantibodies is the most sensitive specific screening method for celiac disease. 21
Helicobacter Pylori infection in children with celiac disease: prevalence and clinico-pathological features 21
Seven novel mutation in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis 21
Expression of proinflammatory and Th1 but not Th2 citokines is enhanced in gastric mucosa of Helicobacter pilori infected children. 21
Sindrome di Rett: una nuova sindrome neurologica legata al sesso. 21
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. 21
Large neutral amino acids (Lnaas) supplementation improves neuropsychological performances in adult patients with phenylketonuria 21
Primrose syndrome: Characterization of the phenotype in 42 patients 21
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 20
Enterocyte actin autoantibody detection: a new diagnostic tool in celiac disease diagnosis: results of a multicenter study. 20
Delayed gastric emptying a novel gastrointestinal finding in Turner syndrome 20
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 20
Detection of helicobacter pylori in stools specimens by non-invasive antigen enzyme immunoassay in children: multicentre italian study. 20
The quality of life of children and adolescents with X-linked agammaglobulinemia 20
Le alterazioni scheletriche dell'omocistinuria in età pediatrica 20
Le alterazioni scheletriche dell'omocistinuria in età pediatrica. 20
Vitamine e cofattori nel trattamento delle malattie metaboliche 20
Macroglossia, abdominal wall defects, peculiar face,and hypoglycemia. 20
Kidney transplantation in patients with Fabry disease 20
Nuove displasie scheletriche su base dismetabolica: condrodisplasie puntate e osteopetrosi. 20
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 20
Structure of the SLC7A7 gene and mutational analysis of patients affected by Lysinuric Protein Intolerance. 19
Testing for serum IgG antibodies to Helicobacter pylori cytotoxin-associated protein detects children with higher grades of gastric inflammation. 19
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly 19
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 18
Severe cardiac anomalies in sibs with Larsen syndrome. 18
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report. 18
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group 18
Echo-Doppler abnormalities in mucopolysaccharide storage diseases 18
Diagnosi di aminoacidopatie mediante elettrocromatografia bidimensionale su strato sottile. 18
Partial trisomy 7q22-q34 due to malsegregation of a complex chromosomal rearragement involving five chromosomes in a girl with mental retardation and multiple congenital malformations. 18
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 18
Totale 2.862
Categoria #
all - tutte 20.216
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 20.216


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020514 223 8 39 10 50 7 11 11 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
2024/2025245 245 0 0 0 0 0 0 0 0 0 0 0
Totale 4.131