MORRONE, AMELIA
 Distribuzione geografica
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Continente #
EU - Europa 7.299
NA - Nord America 6.364
AS - Asia 806
AF - Africa 20
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
Totale 14.497
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Nazione #
US - Stati Uniti d'America 6.345
PL - Polonia 4.754
IT - Italia 791
IE - Irlanda 566
SE - Svezia 415
HK - Hong Kong 275
CN - Cina 201
UA - Ucraina 183
DE - Germania 149
FI - Finlandia 112
GB - Regno Unito 94
VN - Vietnam 90
RU - Federazione Russa 77
JO - Giordania 74
SG - Singapore 62
CH - Svizzera 53
KR - Corea 36
TR - Turchia 35
ES - Italia 30
FR - Francia 28
CA - Canada 17
BE - Belgio 16
NL - Olanda 15
SC - Seychelles 12
AT - Austria 7
JP - Giappone 7
TW - Taiwan 7
IN - India 6
IR - Iran 6
RO - Romania 4
BD - Bangladesh 3
IL - Israele 3
ZA - Sudafrica 3
AU - Australia 2
BA - Bosnia-Erzegovina 2
BR - Brasile 2
EU - Europa 2
LY - Libia 2
MX - Messico 2
NG - Nigeria 2
AR - Argentina 1
DZ - Algeria 1
GR - Grecia 1
LU - Lussemburgo 1
PE - Perù 1
RS - Serbia 1
TH - Thailandia 1
Totale 14.497
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Città #
Warsaw 4.754
Fairfield 1.064
Dublin 562
Woodbridge 495
Chandler 470
Ashburn 456
Seattle 447
Cambridge 435
Houston 414
Wilmington 360
Jacksonville 274
Altamura 239
Lawrence 227
Ann Arbor 182
Florence 179
Hong Kong 157
Princeton 157
Beijing 104
Boston 102
Boardman 97
Medford 64
San Diego 62
Dong Ket 61
Bern 50
New York 49
Shanghai 47
Moscow 44
Kent 37
Singapore 33
Falls Church 32
Izmir 32
Phoenix 28
Milan 23
Barcelona 22
Norwalk 21
Buffalo 20
Rome 18
London 16
Hillsboro 15
Brussels 14
Toronto 14
Aprilia 12
Andover 11
Redwood City 11
Seongnam 11
Seoul 11
Verona 11
Tappahannock 10
Dearborn 9
Los Angeles 9
Naples 9
Arezzo 8
Prato 8
West Jordan 8
Auburn Hills 7
Bologna 6
Garbagnate Milanese 6
Trento 6
Vienna 6
Fuzhou 5
Helsinki 5
Padova 5
Palermo 5
Taipei 5
Frankfurt Am Main 4
Hefei 4
Kilburn 4
Lappeenranta 4
Paris 4
Seocho 4
Tokyo 4
Acton 3
Albignasego 3
Calenzano 3
Castelliri 3
Celano 3
Gorgonzola 3
Ho Chi Minh City 3
Laurel 3
Lausanne 3
Modena 3
Pistoia 3
Redmond 3
Salerno 3
San Casciano in Val di Pesa 3
Siena 3
Turin 3
Venice 3
Washington 3
Ancona 2
Bac Can 2
Bari 2
Bergamo 2
Birmingham 2
Bourges 2
Brasschaat 2
Cagliari 2
Canosa di Puglia 2
Cary 2
Caserta 2
Totale 12.165
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Nome #
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 327
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 244
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 235
Galactosialidosis: review and analysis of CTSA gene mutations 234
GALNS gene expression profiling in Morquio A patients' fibroblasts 233
A diagnosis of Fabry gastrointestinal disease by chance: a case report. 231
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 226
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 220
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. 217
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 217
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. 214
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 213
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 212
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population 211
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 209
Lysosomal storage disorders: molecular basis andlaboratory testing. 209
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. 209
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 208
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 208
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. 206
New clinical and molecular insights on Barth syndrome. 202
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance 202
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 201
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 201
Fabry disease in Italy: first epidemiologic and collaborative study 201
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 197
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. 189
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 188
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 188
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. 186
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 177
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 172
Making Sense of Myotonic Dystrophy. Annual Genetics Meeting: Some Puzzles, Some Answers 169
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome 163
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 150
A genetic modifier of symptom onset in Pompe disease 148
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. 142
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 131
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack 120
Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors 114
(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 110
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 106
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy 106
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease 105
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease 100
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 99
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations 99
Aminoacylase I deficiency due to ACY1 mRNA exon skipping. 99
Iminosugar based pharmacological chaperones: selecting new leads to target Gaucher, Morquio A and Hunter Disease 97
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients 97
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 97
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. 97
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease. 96
Malattia di Anderson-Fabry 95
Evidence for a multivalent effect in inhibition of sulfatases involved in lysosomal storage disorders (LSDs) 93
Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes 93
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. 93
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 93
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 92
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 91
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 91
Asymptomatic dystrophinopathy 90
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 90
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 86
Primary and secondary elastin binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. 84
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 83
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 82
Functional studies of new GLA gene mutations leading to conformational fabry disease. 82
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease 81
null 80
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 79
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 79
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 77
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 76
Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 76
The potential action of galactose as a “chemical chaperone”: increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. 74
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis 74
Stereoselective Synthesis of C‑2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease 73
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin 73
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 72
The enigmatic role of tafazzin in cardiolipin metabolism. 70
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders 69
High frequency of biotinidase deficiency in Italian population identified by newborn screening 69
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 69
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 69
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency 69
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers 69
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 68
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression 68
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients 68
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential 66
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials 66
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. 65
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning 64
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription 63
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 61
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 59
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations 57
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database 57
Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease? 56
Totale 12.786
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Categoria #
all - tutte 40.247
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 40.247
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.326 289 351 117 256 390 345 307 403 287 214 325 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
2023/20241.100 63 116 164 64 71 110 61 204 20 74 89 64
2024/2025101 101 0 0 0 0 0 0 0 0 0 0 0
Totale 14.734