MORRONE, AMELIA
 Distribuzione geografica
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Continente #
NA - Nord America 9.386
EU - Europa 9.259
AS - Asia 1.407
OC - Oceania 82
AF - Africa 45
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 2
Totale 20.188
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Nazione #
US - Stati Uniti d'America 9.363
PL - Polonia 4.754
RU - Federazione Russa 1.876
IT - Italia 882
IE - Irlanda 568
SE - Svezia 416
SG - Singapore 381
HK - Hong Kong 319
CN - Cina 254
UA - Ucraina 183
DE - Germania 163
FI - Finlandia 134
IN - India 112
GB - Regno Unito 101
VN - Vietnam 90
AU - Australia 82
JO - Giordania 74
ID - Indonesia 68
CH - Svizzera 53
TR - Turchia 37
KR - Corea 36
ES - Italia 31
FR - Francia 28
CI - Costa d'Avorio 25
NL - Olanda 24
CA - Canada 21
BE - Belgio 19
SC - Seychelles 12
TW - Taiwan 12
AT - Austria 9
JP - Giappone 7
IR - Iran 6
LT - Lituania 4
RO - Romania 4
BD - Bangladesh 3
IL - Israele 3
ZA - Sudafrica 3
BA - Bosnia-Erzegovina 2
BR - Brasile 2
CL - Cile 2
EU - Europa 2
HR - Croazia 2
LY - Libia 2
MX - Messico 2
NG - Nigeria 2
PE - Perù 2
PH - Filippine 2
AM - Armenia 1
AR - Argentina 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
DZ - Algeria 1
GR - Grecia 1
LU - Lussemburgo 1
NO - Norvegia 1
RS - Serbia 1
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 20.188
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Città #
Warsaw 4.754
Santa Clara 2.583
Fairfield 1.064
Dublin 564
Woodbridge 495
Chandler 470
Ashburn 459
Seattle 447
Cambridge 435
Houston 417
Wilmington 360
Singapore 314
Jacksonville 274
Altamura 239
Lawrence 227
Hong Kong 202
Florence 197
Ann Arbor 182
Princeton 157
Beijing 107
Mumbai 106
Boston 102
Boardman 97
Moscow 86
Melbourne 80
Jakarta 68
Medford 64
San Diego 62
Dong Ket 61
Shanghai 51
Bern 50
New York 50
Kent 37
Falls Church 32
Izmir 32
Milan 31
Phoenix 28
Abidjan 25
Helsinki 23
London 23
Barcelona 22
Rome 22
Norwalk 21
Buffalo 20
Brussels 17
Hillsboro 15
Los Angeles 15
Toronto 15
Bologna 13
Aprilia 12
Andover 11
Redwood City 11
Seongnam 11
Seoul 11
Verona 11
Naples 10
Tappahannock 10
Yubileyny 10
Dearborn 9
Arezzo 8
Lappeenranta 8
Prato 8
West Jordan 8
Auburn Hills 7
Munich 7
Nuremberg 7
Vienna 7
Fuzhou 6
Garbagnate Milanese 6
Guangzhou 6
Trento 6
Padova 5
Palermo 5
Taipei 5
Casalecchio di Reno 4
Dongguan 4
Frankfurt Am Main 4
Frankfurt am Main 4
Genoa 4
Hefei 4
Kilburn 4
Ottawa 4
Paris 4
Seocho 4
Tokyo 4
Venice 4
Acton 3
Albignasego 3
Calenzano 3
Castelliri 3
Celano 3
Council Bluffs 3
Gorgonzola 3
Ho Chi Minh City 3
Laurel 3
Lausanne 3
Modena 3
North Bergen 3
Pistoia 3
Redmond 3
Totale 15.510
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Nome #
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 375
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 292
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 286
Galactosialidosis: review and analysis of CTSA gene mutations 276
GALNS gene expression profiling in Morquio A patients' fibroblasts 265
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 261
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 261
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 260
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. 260
A diagnosis of Fabry gastrointestinal disease by chance: a case report. 255
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 254
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 252
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. 248
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. 247
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 246
Fabry disease in Italy: first epidemiologic and collaborative study 246
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 245
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 239
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 238
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 237
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 235
Lysosomal storage disorders: molecular basis andlaboratory testing. 233
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population 231
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 229
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 229
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. 228
New clinical and molecular insights on Barth syndrome. 226
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance 226
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 219
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. 214
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. 208
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 205
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 195
Making Sense of Myotonic Dystrophy. Annual Genetics Meeting: Some Puzzles, Some Answers 193
A genetic modifier of symptom onset in Pompe disease 189
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome 182
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 173
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. 170
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack 166
Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors 164
(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 158
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease 156
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease 153
Iminosugar based pharmacological chaperones: selecting new leads to target Gaucher, Morquio A and Hunter Disease 150
Malattia di Anderson-Fabry 146
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients 144
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 141
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 140
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy 139
Evidence for a multivalent effect in inhibition of sulfatases involved in lysosomal storage disorders (LSDs) 137
Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes 137
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 136
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 135
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 131
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 131
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 130
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. 130
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 129
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 129
Aminoacylase I deficiency due to ACY1 mRNA exon skipping. 128
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease. 125
Asymptomatic dystrophinopathy 125
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 122
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 121
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 121
Stereoselective Synthesis of C‑2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease 121
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 120
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations 120
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients 118
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 117
High frequency of biotinidase deficiency in Italian population identified by newborn screening 117
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders 116
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 114
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 114
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. 113
Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 112
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning 112
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression 110
Functional studies of new GLA gene mutations leading to conformational fabry disease. 109
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease 109
Primary and secondary elastin binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. 108
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers 107
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 106
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 104
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. 103
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 103
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin 102
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials 100
SARS-CoV-2 infection in a patient with propionic acidemia 100
Synthesis of “All-Cis” Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New -Gal and GCase Inhibitors 100
Photoswitchable inhibitors of human β-glucocerebrosidase 100
The potential action of galactose as a “chemical chaperone”: increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. 96
Dilated cardiomyopathy in mucolipidosis type 2 95
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 95
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase) 95
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 94
NUOVE PIRROLIDINE DENDRIMERICHE, LORO SINTESI E USO MEDICO 94
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 93
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential 93
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis 93
Totale 16.455
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Categoria #
all - tutte 52.253
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 52.253
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.578 0 0 0 0 0 0 307 403 287 214 325 42
2020/20212.442 182 226 107 250 196 301 122 182 254 319 104 199
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
2023/20241.091 60 116 163 64 71 110 61 204 20 73 89 60
2024/20255.804 240 790 448 1.061 2.225 1.034 6 0 0 0 0 0
Totale 20.428