IRIS
ANDRIA, GENEROSO
 Distribuzione geografica
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Continente #
AS - Asia 5.720
NA - Nord America 5.273
EU - Europa 5.044
SA - Sud America 1.028
AF - Africa 160
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 11
Totale 17.249
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Nazione #
US - Stati Uniti d'America 5.045
SG - Singapore 3.424
RU - Federazione Russa 2.596
CN - Cina 958
BR - Brasile 831
HK - Hong Kong 578
IT - Italia 535
VN - Vietnam 389
DE - Germania 340
FI - Finlandia 338
UA - Ucraina 334
IE - Irlanda 255
GB - Regno Unito 167
NL - Olanda 155
CA - Canada 141
AR - Argentina 91
FR - Francia 83
IN - India 83
SE - Svezia 59
ZA - Sudafrica 52
MX - Messico 50
BD - Bangladesh 46
PL - Polonia 43
CI - Costa d'Avorio 41
TR - Turchia 40
JP - Giappone 32
ES - Italia 31
EC - Ecuador 30
ID - Indonesia 25
AT - Austria 23
IQ - Iraq 21
LT - Lituania 16
PK - Pakistan 16
CO - Colombia 15
PY - Paraguay 14
UY - Uruguay 14
MA - Marocco 13
UZ - Uzbekistan 13
KE - Kenya 12
VE - Venezuela 12
AU - Australia 11
BE - Belgio 11
CL - Cile 10
IR - Iran 10
SA - Arabia Saudita 10
AE - Emirati Arabi Uniti 9
PE - Perù 9
DO - Repubblica Dominicana 8
GR - Grecia 8
LB - Libano 8
EG - Egitto 7
JO - Giordania 7
DZ - Algeria 6
EU - Europa 6
HN - Honduras 6
CZ - Repubblica Ceca 5
IL - Israele 5
KZ - Kazakistan 5
RO - Romania 5
BB - Barbados 4
BG - Bulgaria 4
JM - Giamaica 4
PS - Palestinian Territory 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
AZ - Azerbaigian 3
BH - Bahrain 3
BY - Bielorussia 3
CH - Svizzera 3
CR - Costa Rica 3
GA - Gabon 3
KR - Corea 3
LV - Lettonia 3
MD - Moldavia 3
MY - Malesia 3
NI - Nicaragua 3
NP - Nepal 3
PH - Filippine 3
PT - Portogallo 3
TH - Thailandia 3
TW - Taiwan 3
A1 - Anonimo 2
AL - Albania 2
AO - Angola 2
CM - Camerun 2
CW - ???statistics.table.value.countryCode.CW??? 2
EE - Estonia 2
ET - Etiopia 2
GN - Guinea 2
HU - Ungheria 2
IS - Islanda 2
KG - Kirghizistan 2
KH - Cambogia 2
MK - Macedonia 2
ML - Mali 2
NG - Nigeria 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
SY - Repubblica araba siriana 2
AD - Andorra 1
Totale 17.216
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Città #
Singapore 1.443
Moscow 609
Hong Kong 576
Chandler 531
Ashburn 345
Jacksonville 340
Santa Clara 314
Millbury 303
Beijing 290
Princeton 246
Los Angeles 165
Ho Chi Minh City 147
Boston 129
Nanjing 129
Amsterdam 110
Wilmington 107
Buffalo 101
Naples 97
Hanoi 88
Woodbridge 88
Munich 87
Ottawa 83
São Paulo 74
The Dalles 73
Houston 69
Redondo Beach 61
New York 59
Ann Arbor 51
Nanchang 50
Hefei 49
Turku 48
Napoli 46
Helsinki 43
Shenyang 43
Dallas 41
Brooklyn 37
Montreal 37
Falls Church 36
Hebei 36
Warsaw 36
Chennai 31
Phoenix 28
Rome 28
Mexico City 27
Johannesburg 26
Orem 26
Rio de Janeiro 26
Tokyo 26
London 25
Seattle 25
Atlanta 24
Chicago 24
Norwalk 24
Nuremberg 24
Belo Horizonte 23
Falkenstein 22
Kronberg 22
Tianjin 22
Stockholm 21
Poplar 20
Jiaxing 19
Augusta 18
Da Nang 18
Denver 18
Manchester 18
Orange 18
San Francisco 17
Boardman 16
Des Moines 16
Milan 16
San Mateo 16
Ankara 15
Haiphong 15
Campinas 14
Biên Hòa 13
Frankfurt am Main 13
Joinville 13
Kunming 13
Curitiba 12
Montevideo 12
Tashkent 12
Brasília 11
Porto Alegre 11
Quito 11
Salvador 11
Shanghai 11
Mumbai 10
Thái Nguyên 10
Toronto 10
Dhaka 9
Düsseldorf 9
Vienna 9
Baghdad 8
Changsha 8
Dearborn 8
Dublin 8
Guarulhos 8
Leawood 8
Nairobi 8
Ninh Bình 8
Totale 8.209
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Nome #
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 156
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 146
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 142
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 141
Brain damage in glycogen storage disease type I 135
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 133
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 132
Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function 129
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 128
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 127
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 126
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 123
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine 123
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. 120
Megalocornea and mental retardation syndrome: two new cases. 118
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 118
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. 116
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 115
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 114
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome 112
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 111
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 111
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 111
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 110
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 108
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe Disease. 108
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 108
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 108
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 108
Pharmacological chaperone therapy for lysosomal storage diseases 107
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. 107
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 106
Relaxation of Insulin-like growth factor-2 imprinting and discordant methylation at KvDMR1 in two first-cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes 105
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 104
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 102
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 102
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 101
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 101
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 100
Oxidative stress and plateletactivation in homozygous homocystinuria 100
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and function 98
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. 98
Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants 98
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 98
Health implications of homocysteine and folates: possible preventive measures. 97
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. 97
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 97
Unexplained Bilateral Occipital Calcification and Reduced Vision. 96
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 96
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts 96
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. 96
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 95
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)-related disorder 95
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 94
Malattia di Tay-Sachs con elevata attività residua di esosoaminidasi A in leucociti e fibroblasti. 94
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 94
Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities 93
Bone metabolism impairment in glycogen storage disease type 1: a case control study 93
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 92
Enzymaticactivity hydrolyzing -glutamyl- -naphthylamide in human intestine during adultand fetal life 92
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 92
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. 91
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts 90
Brush border and cytosol peptidase activities of human small intestine in normal subjects and celiac patients. 89
“Il sostegno alla relazione tra pediatri e famiglie nella presa in carico delle patologie genetiche-mataboliche rare”. 88
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 88
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 88
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 88
Spina bifida and folate-related genes: a study of gene-gene interactions 87
folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 87
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? 87
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. 87
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 87
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia 86
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity. 85
Response to Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women 84
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations 84
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. 84
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 83
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder. 83
A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs 83
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 83
Impairment of methyl cycle affects mitochondrial methyl availability andglutathione level in Down's syndrome 82
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 81
Genetic risk factors for neural tube defects: folic acid supplementation and prevention of birth defects 81
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 80
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis 80
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 80
A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded childrenand their mothers 80
Autoimmune endocrine disorders in a patient affetcted by glycogen storage disease 1B: casual relationship between neutropenia and autoimmunity 80
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. 79
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome. 79
Universal screening for inherited metabolic diseases in the neonate (and the fetus) 79
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management 79
A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological and cell genetic studies 78
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 78
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 78
Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia 77
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 77
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 77
Totale 9.910
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Categoria #
all - tutte 61.794
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 61.794
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021397 0 0 0 0 0 114 68 3 88 1 117 6
2021/20221.182 7 2 2 15 4 33 4 37 263 49 174 592
2022/20231.234 262 114 24 94 157 120 7 116 165 105 54 16
2023/2024848 30 158 121 50 51 55 21 72 16 11 192 71
2024/20255.815 341 405 18 83 130 225 538 365 530 628 2.026 526
2025/20266.008 1.219 633 949 946 1.892 369 0 0 0 0 0 0
Totale 17.444