IRIS
ANDRIA, GENEROSO
 Distribuzione geografica
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Continente #
NA - Nord America 3.054
EU - Europa 1.632
AS - Asia 417
AF - Africa 41
SA - Sud America 11
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 5
Totale 5.168
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Nazione #
US - Stati Uniti d'America 2.973
IT - Italia 386
CN - Cina 367
UA - Ucraina 304
IE - Irlanda 252
FI - Finlandia 243
DE - Germania 154
NL - Olanda 122
CA - Canada 79
GB - Regno Unito 64
FR - Francia 42
CI - Costa d'Avorio 39
SE - Svezia 37
IN - India 21
BR - Brasile 7
SG - Singapore 7
TR - Turchia 7
BE - Belgio 6
EU - Europa 6
GR - Grecia 6
IR - Iran 6
AU - Australia 5
JP - Giappone 4
RU - Federazione Russa 4
BG - Bulgaria 3
ES - Italia 3
A1 - Anonimo 2
MX - Messico 2
PL - Polonia 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
CL - Cile 1
CO - Colombia 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
RO - Romania 1
TN - Tunisia 1
TW - Taiwan 1
Totale 5.168
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Città #
Chandler 531
Jacksonville 338
Millbury 303
Princeton 246
Nanjing 129
Boston 112
Wilmington 103
Amsterdam 100
Ashburn 92
Woodbridge 88
Ottawa 76
Naples 62
Houston 57
Ann Arbor 51
Nanchang 50
Napoli 46
Shenyang 41
Falls Church 36
Hebei 36
Beijing 30
Norwalk 24
Kronberg 22
Rome 19
Jiaxing 18
Orange 18
Des Moines 16
San Mateo 16
Augusta 15
Tianjin 15
Boardman 13
Kunming 13
Dearborn 8
Leawood 8
Seattle 7
Dublin 6
Genova 6
Heidelberg 6
Indiana 6
Milan 6
Waanrode 6
Washington 6
Changsha 5
Cologno Monzese 5
Lanzhou 5
Pune 5
Redmond 5
Catania 4
Hangzhou 4
Ichibancho 4
Los Angeles 4
Melfi 4
Perth 4
Pietragalla 4
Shanghai 4
Ardabil 3
Changchun 3
Lawrence 3
New York 3
Palermo 3
Singapore 3
Sofia 3
São Paulo 3
Walnut 3
Abbey Wood 2
Atlanta 2
Benalmádena 2
Casoria 2
Columbus 2
Fisciano 2
Florence 2
Florianópolis 2
Groningen 2
Itapetininga 2
London 2
Marano 2
Marsciano 2
Monmouth Junction 2
Ponte di Piave 2
Sant'Antonio Abate 2
Siracusa 2
Thessaloniki 2
Verona 2
Zhengzhou 2
Acerra 1
Alzano 1
Avellino 1
Brest 1
Brisbane 1
Brooklyn 1
Buffalo 1
Cambridge 1
Cantù 1
Castel Gandolfo 1
Castellammare di Stabia 1
Cercola 1
Chengdu 1
Corsano 1
Doha 1
Dubai 1
Edinburgh 1
Totale 2.922
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Nome #
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 70
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 55
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 51
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 50
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 50
A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological and cell genetic studies 49
Brain damage in glycogen storage disease type I 49
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 48
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 48
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 47
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. 46
Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities 46
Malattia di Tay-Sachs con elevata attività residua di esosoaminidasi A in leucociti e fibroblasti. 45
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 45
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 44
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 44
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. 44
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 44
Pharmacological chaperone therapy for lysosomal storage diseases 43
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 43
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 43
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease 42
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 42
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 41
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 41
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 39
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 38
Unexplained Bilateral Occipital Calcification and Reduced Vision. 37
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. 37
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. 37
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 37
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine 37
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 36
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 36
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 36
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 35
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 35
Megalocornea and mental retardation syndrome: two new cases. 34
Lysinuric protein intolerance: Possible genetic heterogeneity? 34
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. 34
Health implications of homocysteine and folates: possible preventive measures. 33
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 33
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy. 33
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 33
Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants 33
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts 33
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 33
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 32
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 32
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. 31
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. 31
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 31
An emerging phenotype of proximal 11q deletions. 31
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 31
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 30
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 30
A European Consortium for Lysosomal Storage Diseases 30
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 30
L'omocistinuria da deficit di cistationina sintasi. 30
Early intervention for children with Down syndrome in Southern Italy: the role of parent-implemented developmental training. 30
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 30
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia 30
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis 29
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 29
Pompe Disease: from New Views on Pathophysiology to Innovative Therapeutic Strategies 29
Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients 29
The cardiologist and mucopolysaccharidosis. Recommendations of GICEM (Italian Group of Cardiologists with Expertise on Metabolic Diseases) on diagnosis, follow up and cardiological management 29
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 28
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 28
Arylamidase activities of brushborder membrane of rat intestine 28
CFC syndrome: report of familial cases 28
A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs 28
L'omocistinuria da deficit di cistationina sintasi: risultati biochimici e clinici con differenti approcci terapeutici. 28
folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 27
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 27
Assistenza, formazione e ricerca per le malattie genetiche rare dell’età pediatrica 27
Bone metabolism impairment in glycogen storage disease type 1: a case control study 27
Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease 27
Molecular characterization of patients with chondrodysplasia punctata 26
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase 26
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 26
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 25
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations 25
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 25
Imino sugars deoxynojirimycin and N-butyldeoxynojirimycin enhance alpha-glucosidase activity in fibroblasts from patients with intermediate and late onset Pompe disease 25
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 25
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 24
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe Disease. 24
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 24
A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded childrenand their mothers 24
Efficacy of ACE-inhibitors therapy on renal disease in glycogen storage disease type I (GSDI): a multicentre retrospective Italian study 24
Prevalenza della diagnosi di omocistinuria da deficit di cistationina-beta-sintasi in Italia: uno studio multicentrico. 24
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 24
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and function 23
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 23
Brush border and cytosol peptidase activities of human small intestine in normal subjects and celiac patients. 23
Enzymaticactivity hydrolyzing -glutamyl- -naphthylamide in human intestine during adultand fetal life 23
Approccio diagnostico alle aminoacidopatie. 23
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 22
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease 22
Totale 3.380
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Categoria #
all - tutte 24.088
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 24.088
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201917 0 0 0 0 0 0 0 0 0 0 4 13
2019/2020658 299 3 68 9 69 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
2023/2024585 30 158 121 50 51 55 21 72 16 11 0 0
Totale 5.358