MORRONE, AMELIA
 Distribuzione geografica
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Continente #
NA - Nord America 14.306
EU - Europa 11.957
AS - Asia 5.726
SA - Sud America 949
Continente sconosciuto - Info sul continente non disponibili 304
AF - Africa 149
OC - Oceania 105
Totale 33.496
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Nazione #
US - Stati Uniti d'America 13.942
PL - Polonia 4.780
RU - Federazione Russa 2.498
IT - Italia 2.259
SG - Singapore 1.593
CN - Cina 1.334
HK - Hong Kong 777
BR - Brasile 741
VN - Vietnam 716
IE - Irlanda 572
KR - Corea 497
SE - Svezia 440
DE - Germania 269
FI - Finlandia 266
FR - Francia 238
CA - Canada 222
UA - Ucraina 193
IN - India 178
GB - Regno Unito 149
BD - Bangladesh 125
AU - Australia 102
ID - Indonesia 97
JO - Giordania 83
JP - Giappone 74
AR - Argentina 68
NL - Olanda 63
TR - Turchia 63
ES - Italia 59
CH - Svizzera 58
MX - Messico 52
EC - Ecuador 41
CI - Costa d'Avorio 30
CO - Colombia 27
IQ - Iraq 26
ZA - Sudafrica 25
AT - Austria 23
BE - Belgio 22
CL - Cile 19
MA - Marocco 17
UZ - Uzbekistan 17
NG - Nigeria 16
PK - Pakistan 16
JM - Giamaica 15
PE - Perù 15
TW - Taiwan 15
IL - Israele 14
VE - Venezuela 14
AE - Emirati Arabi Uniti 13
SC - Seychelles 13
EG - Egitto 12
HN - Honduras 12
LT - Lituania 12
CR - Costa Rica 11
UY - Uruguay 11
DZ - Algeria 10
AZ - Azerbaigian 9
MY - Malesia 9
NP - Nepal 9
PH - Filippine 9
SA - Arabia Saudita 9
GT - Guatemala 8
IR - Iran 8
OM - Oman 8
PR - Porto Rico 8
PY - Paraguay 8
DO - Repubblica Dominicana 7
TN - Tunisia 7
AL - Albania 6
BJ - Benin 6
CZ - Repubblica Ceca 6
DK - Danimarca 6
KZ - Kazakistan 6
RO - Romania 5
TT - Trinidad e Tobago 5
BA - Bosnia-Erzegovina 4
HR - Croazia 4
SI - Slovenia 4
SV - El Salvador 4
BG - Bulgaria 3
BO - Bolivia 3
BS - Bahamas 3
HU - Ungheria 3
KE - Kenya 3
KG - Kirghizistan 3
NI - Nicaragua 3
NO - Norvegia 3
PS - Palestinian Territory 3
SK - Slovacchia (Repubblica Slovacca) 3
AW - Aruba 2
BB - Barbados 2
CU - Cuba 2
ET - Etiopia 2
EU - Europa 2
GE - Georgia 2
GP - Guadalupe 2
LY - Libia 2
MM - Myanmar 2
PA - Panama 2
PT - Portogallo 2
RS - Serbia 2
Totale 33.163
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Città #
Warsaw 4.773
Santa Clara 2.651
Ashburn 1.645
Singapore 1.174
Fairfield 1.064
Hong Kong 649
Dublin 566
San Jose 496
Woodbridge 495
Chandler 471
Seoul 461
Seattle 453
Cambridge 435
Houston 430
Wilmington 362
Milan 356
Council Bluffs 332
Beijing 289
Hefei 281
Florence 280
Jacksonville 280
Altamura 240
Lawrence 227
Ho Chi Minh City 202
Los Angeles 195
Ann Arbor 182
Hanoi 162
Princeton 161
Rome 161
Lauterbourg 139
The Dalles 134
Dallas 121
Moscow 121
New York 120
Boston 119
Helsinki 114
Mumbai 110
Boardman 108
Buffalo 100
Phoenix 99
Melbourne 86
Jakarta 76
Tokyo 69
San Diego 66
Kent 65
Medford 65
Dong Ket 61
Shanghai 57
Chicago 56
Naples 56
São Paulo 56
Munich 55
Bern 50
Toronto 47
Bologna 44
Turin 39
Paris 38
London 34
Izmir 33
Falls Church 32
Rio de Janeiro 32
Frankfurt am Main 31
Genoa 31
Lappeenranta 31
Palermo 31
Abidjan 30
Haiphong 29
Montreal 29
Clifton 28
Guangzhou 28
Orem 28
Columbus 27
Redondo Beach 27
Barcelona 25
Norwalk 22
Nuremberg 22
Brooklyn 21
Da Nang 21
Chennai 20
Stockholm 20
Atlanta 19
Brussels 19
Venice 19
Austin 18
Turku 18
Verona 18
Brasília 17
Miano 17
Bari 16
Brescia 16
Hillsboro 16
Las Vegas 16
Springfield 16
Tashkent 16
Amsterdam 15
Denver 15
Figino 15
San Francisco 15
Washington 15
Campinas 14
Totale 22.706
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Nome #
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 601
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 569
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 396
A diagnosis of Fabry gastrointestinal disease by chance: a case report. 370
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 350
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. 348
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 346
GALNS gene expression profiling in Morquio A patients' fibroblasts 344
Galactosialidosis: review and analysis of CTSA gene mutations 341
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 338
Fabry disease in Italy: first epidemiologic and collaborative study 335
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 330
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 330
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. 329
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. 323
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 322
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 319
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 310
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 305
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 304
Lysosomal storage disorders: molecular basis andlaboratory testing. 303
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. 298
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population 298
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 293
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 292
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 290
A genetic modifier of symptom onset in Pompe disease 288
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 283
Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes 277
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. 276
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance 276
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease 275
New clinical and molecular insights on Barth syndrome. 271
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 265
Making Sense of Myotonic Dystrophy. Annual Genetics Meeting: Some Puzzles, Some Answers 264
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 263
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 260
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. 257
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack 240
Iminosugar based pharmacological chaperones: selecting new leads to target Gaucher, Morquio A and Hunter Disease 240
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. 239
Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors 238
(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 235
Malattia di Anderson-Fabry 232
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 228
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 226
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease 223
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients 221
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome 218
Dilated cardiomyopathy in mucolipidosis type 2 214
Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre 213
Evidence for a multivalent effect in inhibition of sulfatases involved in lysosomal storage disorders (LSDs) 212
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers 212
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 209
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 208
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders 208
High frequency of biotinidase deficiency in Italian population identified by newborn screening 207
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 206
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 205
Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS) 204
Amphiphilic Iminosugar Pharmacological Chaperones towards beta-Glucocerebrosidase: Self-Assembly and Biological Activity 203
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 202
Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applications 201
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 200
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 199
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning 199
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. 198
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients 197
Aminoacylase I deficiency due to ACY1 mRNA exon skipping. 195
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy 194
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease. 192
SARS-CoV-2 infection in a patient with propionic acidemia 192
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression 188
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 185
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 183
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 182
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 180
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 180
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 180
Light-Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological Chaperones 179
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 179
Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 177
Asymptomatic dystrophinopathy 177
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry 176
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 175
Stereoselective Synthesis of C‑2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease 175
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase) 175
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials 173
pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene 172
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations 172
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 171
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 170
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 170
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 170
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin 170
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 168
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 167
Morquio B disease: From pathophysiology towards diagnosis 166
Synthesis of “All-Cis” Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New -Gal and GCase Inhibitors 165
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 163
Totale 24.337
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Categoria #
all - tutte 89.430
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 89.430
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022804 0 0 0 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
2026/20271.844 524 339 778 203 0 0 0 0 0 0 0 0
Totale 33.496