MORRONE, AMELIA
 Distribuzione geografica
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Continente #
NA - Nord America 12.504
EU - Europa 10.848
AS - Asia 5.660
SA - Sud America 907
AF - Africa 148
OC - Oceania 103
Continente sconosciuto - Info sul continente non disponibili 4
Totale 30.174
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Nazione #
US - Stati Uniti d'America 12.344
PL - Polonia 4.780
RU - Federazione Russa 2.498
SG - Singapore 1.585
CN - Cina 1.331
IT - Italia 1.187
HK - Hong Kong 775
BR - Brasile 719
VN - Vietnam 713
IE - Irlanda 571
KR - Corea 497
SE - Svezia 432
DE - Germania 268
FI - Finlandia 266
FR - Francia 233
UA - Ucraina 192
IN - India 177
GB - Regno Unito 141
AU - Australia 100
ID - Indonesia 96
BD - Bangladesh 90
CA - Canada 84
JO - Giordania 83
JP - Giappone 71
AR - Argentina 65
TR - Turchia 63
CH - Svizzera 57
ES - Italia 56
NL - Olanda 56
MX - Messico 48
EC - Ecuador 35
CI - Costa d'Avorio 30
IQ - Iraq 26
ZA - Sudafrica 25
AT - Austria 23
BE - Belgio 21
CL - Cile 19
CO - Colombia 18
MA - Marocco 17
UZ - Uzbekistan 17
NG - Nigeria 16
PK - Pakistan 15
IL - Israele 14
PE - Perù 14
VE - Venezuela 14
TW - Taiwan 13
AE - Emirati Arabi Uniti 12
EG - Egitto 12
SC - Seychelles 12
LT - Lituania 11
DZ - Algeria 10
UY - Uruguay 10
AZ - Azerbaigian 9
NP - Nepal 9
IR - Iran 8
MY - Malesia 8
OM - Oman 8
PY - Paraguay 8
DO - Repubblica Dominicana 7
PH - Filippine 7
SA - Arabia Saudita 7
TN - Tunisia 7
AL - Albania 6
BJ - Benin 6
CZ - Repubblica Ceca 6
DK - Danimarca 6
HN - Honduras 6
JM - Giamaica 6
KZ - Kazakistan 6
RO - Romania 5
BA - Bosnia-Erzegovina 4
HR - Croazia 4
SI - Slovenia 4
BG - Bulgaria 3
BO - Bolivia 3
GT - Guatemala 3
HU - Ungheria 3
KE - Kenya 3
KG - Kirghizistan 3
NO - Norvegia 3
PS - Palestinian Territory 3
SK - Slovacchia (Repubblica Slovacca) 3
CR - Costa Rica 2
ET - Etiopia 2
EU - Europa 2
GE - Georgia 2
LY - Libia 2
PT - Portogallo 2
RS - Serbia 2
SR - Suriname 2
TH - Thailandia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CM - Camerun 1
CU - Cuba 1
GR - Grecia 1
Totale 30.154
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Città #
Warsaw 4.773
Santa Clara 2.610
Ashburn 1.411
Singapore 1.171
Fairfield 1.064
Hong Kong 647
Dublin 566
Woodbridge 495
Chandler 471
Seoul 461
Seattle 451
Cambridge 435
Houston 427
Wilmington 360
Beijing 288
San Jose 285
Hefei 281
Jacksonville 278
Florence 244
Altamura 239
Lawrence 227
Ho Chi Minh City 201
Council Bluffs 195
Ann Arbor 182
Hanoi 161
Princeton 159
Los Angeles 143
Lauterbourg 139
The Dalles 132
Moscow 121
Boston 117
Helsinki 114
Dallas 110
Mumbai 110
New York 107
Boardman 99
Buffalo 93
Melbourne 86
Jakarta 76
Tokyo 66
Kent 65
Medford 65
Milan 64
San Diego 63
Dong Ket 61
Shanghai 57
Munich 55
São Paulo 54
Bern 50
Rome 43
Phoenix 42
Paris 38
Izmir 33
Falls Church 32
Rio de Janeiro 32
Frankfurt am Main 31
Lappeenranta 31
London 31
Abidjan 30
Chicago 28
Clifton 28
Guangzhou 28
Haiphong 28
Orem 28
Redondo Beach 27
Barcelona 23
Toronto 23
Da Nang 21
Norwalk 21
Nuremberg 21
Chennai 20
Montreal 20
Bologna 19
Brussels 18
Turku 18
Hillsboro 16
Naples 16
Stockholm 16
Tashkent 16
Brooklyn 15
Denver 15
Palermo 15
Campinas 14
Amsterdam 13
Belo Horizonte 13
Bengaluru 13
Johannesburg 13
Lima 13
Abuja 12
Aprilia 12
Austin 12
Can Tho 12
Cascina 12
Tianjin 12
Turin 12
Andover 11
Guayaquil 11
Hải Dương 11
Redwood City 11
Santiago 11
Totale 21.170
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Nome #
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 554
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 546
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 368
A diagnosis of Fabry gastrointestinal disease by chance: a case report. 347
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 338
Galactosialidosis: review and analysis of CTSA gene mutations 324
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 323
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. 322
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 322
GALNS gene expression profiling in Morquio A patients' fibroblasts 318
Fabry disease in Italy: first epidemiologic and collaborative study 316
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 314
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. 311
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. 311
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 310
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 301
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 300
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 294
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 293
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 291
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 285
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population 282
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 276
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. 275
Lysosomal storage disorders: molecular basis andlaboratory testing. 274
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 274
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 273
A genetic modifier of symptom onset in Pompe disease 265
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance 262
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. 259
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease 257
New clinical and molecular insights on Barth syndrome. 254
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 250
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 248
Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes 247
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 247
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. 245
Making Sense of Myotonic Dystrophy. Annual Genetics Meeting: Some Puzzles, Some Answers 234
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack 231
Iminosugar based pharmacological chaperones: selecting new leads to target Gaucher, Morquio A and Hunter Disease 224
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B 221
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. 220
Malattia di Anderson-Fabry 219
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 217
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome 210
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease 209
Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors 209
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients 203
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 200
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 195
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 195
Evidence for a multivalent effect in inhibition of sulfatases involved in lysosomal storage disorders (LSDs) 193
Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS) 189
Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre 189
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 189
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers 189
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 187
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 186
Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applications 185
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders 185
High frequency of biotinidase deficiency in Italian population identified by newborn screening 184
Amphiphilic Iminosugar Pharmacological Chaperones towards beta-Glucocerebrosidase: Self-Assembly and Biological Activity 183
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 182
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients 182
Aminoacylase I deficiency due to ACY1 mRNA exon skipping. 181
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. 180
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy 177
Dilated cardiomyopathy in mucolipidosis type 2 177
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning 174
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease. 173
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 173
Light-Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological Chaperones 172
SARS-CoV-2 infection in a patient with propionic acidemia 172
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 171
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation 169
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 169
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 168
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression 167
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 165
pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene 164
Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 164
Asymptomatic dystrophinopathy 163
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase) 163
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 162
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 160
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 160
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry 158
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations 158
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials 157
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 156
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 156
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 156
Stereoselective Synthesis of C‑2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease 156
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin 156
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 153
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 153
Morquio B disease: From pathophysiology towards diagnosis 152
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience 151
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 150
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction 149
Totale 22.571
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Categoria #
all - tutte 79.361
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 79.361
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021199 0 0 0 0 0 0 0 0 0 0 0 199
2021/2022993 35 72 82 40 25 76 48 81 58 67 149 260
2022/20232.713 266 549 169 124 173 472 337 149 252 31 98 93
2023/20241.090 60 116 163 64 71 110 61 204 20 72 89 60
2024/20257.424 240 787 447 1.058 2.223 1.033 142 319 365 185 291 334
2025/20268.425 810 1.177 866 927 905 414 991 569 575 566 595 30
Totale 30.472