MORRONE, AMELIA
 Distribuzione geografica
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Continente #
NA - Nord America 13.138
EU - Europa 11.885
AS - Asia 5.704
SA - Sud America 917
Continente sconosciuto - Info sul continente non disponibili 304
AF - Africa 149
OC - Oceania 103
Totale 32.200
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Nazione #
US - Stati Uniti d'America 12.829
PL - Polonia 4.780
RU - Federazione Russa 2.498
IT - Italia 2.211
SG - Singapore 1.590
CN - Cina 1.333
HK - Hong Kong 776
BR - Brasile 723
VN - Vietnam 714
IE - Irlanda 571
KR - Corea 497
SE - Svezia 436
DE - Germania 268
FI - Finlandia 266
FR - Francia 237
CA - Canada 197
UA - Ucraina 193
IN - India 177
GB - Regno Unito 141
BD - Bangladesh 124
AU - Australia 100
ID - Indonesia 96
JO - Giordania 83
JP - Giappone 71
AR - Argentina 66
TR - Turchia 63
NL - Olanda 59
CH - Svizzera 57
ES - Italia 56
MX - Messico 51
EC - Ecuador 36
CI - Costa d'Avorio 30
IQ - Iraq 26
ZA - Sudafrica 25
AT - Austria 23
BE - Belgio 22
CO - Colombia 20
CL - Cile 19
MA - Marocco 17
UZ - Uzbekistan 17
NG - Nigeria 16
PE - Perù 15
PK - Pakistan 15
IL - Israele 14
VE - Venezuela 14
SC - Seychelles 13
TW - Taiwan 13
AE - Emirati Arabi Uniti 12
EG - Egitto 12
LT - Lituania 11
UY - Uruguay 11
DZ - Algeria 10
AZ - Azerbaigian 9
HN - Honduras 9
JM - Giamaica 9
MY - Malesia 9
NP - Nepal 9
IR - Iran 8
OM - Oman 8
PY - Paraguay 8
DO - Repubblica Dominicana 7
PH - Filippine 7
PR - Porto Rico 7
SA - Arabia Saudita 7
TN - Tunisia 7
AL - Albania 6
BJ - Benin 6
CR - Costa Rica 6
CZ - Repubblica Ceca 6
DK - Danimarca 6
GT - Guatemala 6
KZ - Kazakistan 6
RO - Romania 5
BA - Bosnia-Erzegovina 4
HR - Croazia 4
SI - Slovenia 4
TT - Trinidad e Tobago 4
BG - Bulgaria 3
BO - Bolivia 3
HU - Ungheria 3
KE - Kenya 3
KG - Kirghizistan 3
NO - Norvegia 3
PS - Palestinian Territory 3
SK - Slovacchia (Repubblica Slovacca) 3
SV - El Salvador 3
AW - Aruba 2
ET - Etiopia 2
EU - Europa 2
GE - Georgia 2
GP - Guadalupe 2
LY - Libia 2
PT - Portogallo 2
RS - Serbia 2
SR - Suriname 2
TH - Thailandia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AG - Antigua e Barbuda 1
AM - Armenia 1
BB - Barbados 1
Totale 31.873
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Città #
Warsaw 4.773
Santa Clara 2.636
Ashburn 1.533
Singapore 1.174
Fairfield 1.064
Hong Kong 648
Dublin 566
Woodbridge 495
Chandler 471
Seoul 461
Seattle 452
Cambridge 435
Houston 428
Wilmington 360
Milan 350
San Jose 317
Beijing 289
Hefei 281
Jacksonville 278
Florence 272
Altamura 239
Lawrence 227
Ho Chi Minh City 202
Council Bluffs 199
Ann Arbor 182
Los Angeles 180
Hanoi 161
Princeton 160
Rome 158
Lauterbourg 139
The Dalles 133
Moscow 121
Boston 117
Helsinki 114
Dallas 113
Mumbai 110
New York 109
Boardman 107
Buffalo 98
Melbourne 86
Jakarta 76
Tokyo 66
Kent 65
Medford 65
San Diego 63
Dong Ket 61
Shanghai 57
Munich 55
Naples 55
São Paulo 54
Bern 50
Phoenix 45
Bologna 43
Toronto 39
Paris 38
Turin 38
London 34
Izmir 33
Falls Church 32
Rio de Janeiro 32
Frankfurt am Main 31
Genoa 31
Lappeenranta 31
Palermo 31
Abidjan 30
Chicago 28
Clifton 28
Guangzhou 28
Haiphong 28
Montreal 28
Orem 28
Redondo Beach 27
Barcelona 23
Da Nang 21
Norwalk 21
Nuremberg 21
Chennai 20
Stockholm 20
Brussels 19
Venice 19
Brooklyn 18
Turku 18
Verona 18
Austin 16
Bari 16
Brescia 16
Hillsboro 16
Miano 16
Tashkent 16
Denver 15
Springfield 15
Campinas 14
Modena 14
Amsterdam 13
Belo Horizonte 13
Bengaluru 13
Catania 13
Figino 13
Johannesburg 13
Lima 13
Totale 22.051
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Nome #
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 577
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 564
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 388
A diagnosis of Fabry gastrointestinal disease by chance: a case report. 363
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 343
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. 339
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 338
GALNS gene expression profiling in Morquio A patients' fibroblasts 336
Galactosialidosis: review and analysis of CTSA gene mutations 335
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 328
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 324
Fabry disease in Italy: first epidemiologic and collaborative study 324
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 323
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. 321
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. 319
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 314
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 312
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 306
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 301
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 299
Lysosomal storage disorders: molecular basis andlaboratory testing. 291
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population 288
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 287
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. 285
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 283
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 280
A genetic modifier of symptom onset in Pompe disease 280
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 279
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. 271
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance 271
Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes 266
New clinical and molecular insights on Barth syndrome. 263
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease 262
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 257
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 256
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 256
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. 254
Making Sense of Myotonic Dystrophy. Annual Genetics Meeting: Some Puzzles, Some Answers 250
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack 237
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. 232
(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 230
Iminosugar based pharmacological chaperones: selecting new leads to target Gaucher, Morquio A and Hunter Disease 227
Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors 226
Malattia di Anderson-Fabry 225
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 224
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease 218
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 215
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome 215
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients 214
Dilated cardiomyopathy in mucolipidosis type 2 208
Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre 206
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers 206
Evidence for a multivalent effect in inhibition of sulfatases involved in lysosomal storage disorders (LSDs) 202
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 200
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders 199
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 199
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 198
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 197
Amphiphilic Iminosugar Pharmacological Chaperones towards beta-Glucocerebrosidase: Self-Assembly and Biological Activity 197
High frequency of biotinidase deficiency in Italian population identified by newborn screening 196
Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS) 195
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 195
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 194
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 192
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients 192
Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applications 190
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy 190
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. 190
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning 190
SARS-CoV-2 infection in a patient with propionic acidemia 188
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease. 186
Aminoacylase I deficiency due to ACY1 mRNA exon skipping. 185
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression 182
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 179
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 177
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 176
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 176
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 176
Light-Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological Chaperones 175
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 174
Asymptomatic dystrophinopathy 172
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 171
Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 170
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase) 170
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 169
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 168
Stereoselective Synthesis of C‑2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease 168
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations 167
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials 166
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 166
pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene 165
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry 165
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin 164
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 162
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 161
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 161
Synthesis of “All-Cis” Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New -Gal and GCase Inhibitors 161
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 159
Morquio B disease: From pathophysiology towards diagnosis 159
Functional studies of new GLA gene mutations leading to conformational fabry disease. 155
Totale 23.605
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Categoria #
all - tutte 84.748
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 84.748
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022958 0 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
2025/20269.605 810 1.177 866 927 905 414 991 569 575 566 595 1.210
2026/2027548 524 24 0 0 0 0 0 0 0 0 0 0
Totale 32.200