IRIS
ANDRIA, GENEROSO
 Distribuzione geografica
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Continente #
NA - Nord America 3.595
EU - Europa 1.806
AS - Asia 1.149
AF - Africa 41
SA - Sud America 11
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 8
Totale 6.619
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Nazione #
US - Stati Uniti d'America 3.512
SG - Singapore 711
IT - Italia 450
CN - Cina 393
UA - Ucraina 304
FI - Finlandia 268
IE - Irlanda 253
DE - Germania 173
NL - Olanda 125
CA - Canada 80
GB - Regno Unito 70
RU - Federazione Russa 50
FR - Francia 43
CI - Costa d'Avorio 39
SE - Svezia 37
IN - India 21
AU - Australia 9
TR - Turchia 9
BR - Brasile 7
BE - Belgio 6
EU - Europa 6
GR - Grecia 6
IR - Iran 6
JP - Giappone 4
PL - Polonia 4
BG - Bulgaria 3
ES - Italia 3
MX - Messico 3
RO - Romania 3
A1 - Anonimo 2
CH - Svizzera 2
CZ - Repubblica Ceca 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
CL - Cile 1
CO - Colombia 1
HU - Ungheria 1
IL - Israele 1
KR - Corea 1
MA - Marocco 1
MK - Macedonia 1
NO - Norvegia 1
PE - Perù 1
PT - Portogallo 1
QA - Qatar 1
TN - Tunisia 1
TW - Taiwan 1
Totale 6.619
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Città #
Singapore 599
Chandler 531
Jacksonville 338
Millbury 303
Santa Clara 287
Princeton 246
Nanjing 129
Boston 112
Wilmington 103
Amsterdam 100
Ashburn 96
Woodbridge 88
Naples 81
Ottawa 77
Houston 57
Ann Arbor 51
Nanchang 50
Napoli 46
Shenyang 41
Falls Church 36
Hebei 36
Beijing 31
Norwalk 24
Helsinki 23
Rome 23
Kronberg 22
Jiaxing 18
Orange 18
Des Moines 16
Munich 16
San Mateo 16
Augusta 15
Tianjin 15
Boardman 14
Milan 14
Kunming 13
Moscow 9
Dearborn 8
Leawood 8
Dublin 7
Seattle 7
Genova 6
Heidelberg 6
Indiana 6
Shanghai 6
Waanrode 6
Washington 6
Changsha 5
Cologno Monzese 5
Guangzhou 5
Lanzhou 5
Los Angeles 5
Pune 5
Redmond 5
Catania 4
Hangzhou 4
Ichibancho 4
Melfi 4
Perth 4
Pietragalla 4
Agnano 3
Ardabil 3
Brisbane 3
Canary Wharf 3
Changchun 3
Dallas 3
Groningen 3
Lawrence 3
London 3
New York 3
Palermo 3
Prineville 3
Salerno 3
Sofia 3
São Paulo 3
Walnut 3
Woodstock 3
Zhengzhou 3
Abbey Wood 2
Atlanta 2
Benalmádena 2
Brno 2
Bucharest 2
Casoria 2
Columbus 2
Espoo 2
Fisciano 2
Florence 2
Florianópolis 2
Istanbul 2
Itapetininga 2
Marano 2
Marsciano 2
Monmouth Junction 2
Padova 2
Ponte di Piave 2
San Benedetto del Tronto 2
Sant'Antonio Abate 2
Siracusa 2
Sydney 2
Totale 3.917
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Nome #
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 80
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 66
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 61
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 59
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 58
A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological and cell genetic studies 56
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 55
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. 54
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 54
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 54
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 54
Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities 53
Brain damage in glycogen storage disease type I 53
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 51
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 51
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 51
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 51
Malattia di Tay-Sachs con elevata attività residua di esosoaminidasi A in leucociti e fibroblasti. 51
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine 51
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 50
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 49
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 49
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. 49
Pharmacological chaperone therapy for lysosomal storage diseases 48
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. 48
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 48
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 47
Unexplained Bilateral Occipital Calcification and Reduced Vision. 46
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 46
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease 45
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 45
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 44
Megalocornea and mental retardation syndrome: two new cases. 44
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 43
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 43
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 42
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 42
L'omocistinuria da deficit di cistationina sintasi: risultati biochimici e clinici con differenti approcci terapeutici. 41
Health implications of homocysteine and folates: possible preventive measures. 40
Lysinuric protein intolerance: Possible genetic heterogeneity? 40
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. 40
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 40
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts 40
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management 40
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 39
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy. 39
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 39
Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants 39
A European Consortium for Lysosomal Storage Diseases 39
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. 39
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 39
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia 39
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 38
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 38
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 37
An emerging phenotype of proximal 11q deletions. 37
Pompe Disease: from New Views on Pathophysiology to Innovative Therapeutic Strategies 37
SIGEP(Italian Society of Pediatric Gastroenterology and Hepatology) and MedicalGenetic Group. Prevalence and clinical picture of celiac disease in italian down syndrome patients: a multicenter study 37
Early intervention for children with Down syndrome in Southern Italy: the role of parent-implemented developmental training. 37
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 36
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 36
Bone metabolism impairment in glycogen storage disease type 1: a case control study 36
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 35
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 35
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 35
folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 34
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 34
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 34
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. 34
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 34
L'omocistinuria da deficit di cistationina sintasi. 34
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase 33
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. 33
Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients 33
Ritardo mentale aspecifico ed eterozigosità per fenilchetonuria. 33
Molecucal and cytogenetic chracterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions 32
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis 32
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 32
Assistenza, formazione e ricerca per le malattie genetiche rare dell’età pediatrica 32
Arylamidase activities of brushborder membrane of rat intestine 32
Imino sugars deoxynojirimycin and N-butyldeoxynojirimycin enhance alpha-glucosidase activity in fibroblasts from patients with intermediate and late onset Pompe disease 32
Molecular characterization of patients with chondrodysplasia punctata 31
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 31
CFC syndrome: report of familial cases 31
A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs 31
Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease 31
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 30
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe Disease. 30
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 30
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations 30
A 68-bp insertion foundin a homocystinuric patient is a common variant and is skipped by alternativesplicing of the cystathionine beta-synthase mRNA. 30
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-beta-sintasi in Italia: uno studio multicentrico. 30
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 30
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 30
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 30
Response to Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women 29
Spina bifida and folate-related genes: a study of gene-gene interactions 29
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 29
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder. 29
Brush border and cytosol peptidase activities of human small intestine in normal subjects and celiac patients. 29
Totale 4.056
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Categoria #
all - tutte 34.958
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 34.958
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020210 0 0 0 0 0 12 6 3 5 23 64 97
2020/2021671 9 61 68 68 68 114 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
2024/20251.189 341 405 18 83 130 212 0 0 0 0 0 0
Totale 6.810