ZAMMARCHI, ENRICO
 Distribuzione geografica
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Continente #
EU - Europa 5.546
NA - Nord America 5.045
AS - Asia 1.568
SA - Sud America 159
OC - Oceania 49
AF - Africa 47
Totale 12.414
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Nazione #
US - Stati Uniti d'America 5.002
PL - Polonia 3.373
RU - Federazione Russa 858
SG - Singapore 467
CN - Cina 326
SE - Svezia 268
IE - Irlanda 243
VN - Vietnam 210
HK - Hong Kong 209
IT - Italia 194
UA - Ucraina 161
DE - Germania 152
KR - Corea 130
BR - Brasile 128
FI - Finlandia 91
IN - India 81
GB - Regno Unito 76
FR - Francia 67
AU - Australia 48
ID - Indonesia 29
TR - Turchia 26
CA - Canada 24
CH - Svizzera 17
JO - Giordania 16
BD - Bangladesh 14
IQ - Iraq 12
JP - Giappone 12
MX - Messico 12
NL - Olanda 12
SC - Seychelles 12
AR - Argentina 10
CI - Costa d'Avorio 10
LT - Lituania 8
EC - Ecuador 7
ES - Italia 7
UZ - Uzbekistan 7
MA - Marocco 6
BE - Belgio 5
ZA - Sudafrica 5
AT - Austria 4
CL - Cile 4
DZ - Algeria 4
NP - Nepal 4
VE - Venezuela 4
DO - Repubblica Dominicana 3
KE - Kenya 3
MY - Malesia 3
PK - Pakistan 3
CO - Colombia 2
IL - Israele 2
KZ - Kazakistan 2
OM - Oman 2
PH - Filippine 2
PT - Portogallo 2
SA - Arabia Saudita 2
SI - Slovenia 2
TH - Thailandia 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BG - Bulgaria 1
BJ - Benin 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CM - Camerun 1
CR - Costa Rica 1
CU - Cuba 1
EG - Egitto 1
ET - Etiopia 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
IR - Iran 1
KG - Kirghizistan 1
LB - Libano 1
LU - Lussemburgo 1
ME - Montenegro 1
MM - Myanmar 1
MU - Mauritius 1
NO - Norvegia 1
PE - Perù 1
PS - Palestinian Territory 1
PW - Palau 1
SN - Senegal 1
TG - Togo 1
Totale 12.414
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Città #
Warsaw 3.372
Santa Clara 1.035
Fairfield 474
Ashburn 429
Singapore 354
Jacksonville 272
Dublin 243
Chandler 232
Woodbridge 199
Cambridge 194
Seattle 181
Wilmington 167
Hong Kong 162
Houston 159
Seoul 123
San Jose 102
Beijing 77
Altamura 74
Lawrence 68
The Dalles 68
Hefei 63
Mumbai 60
Princeton 58
Ann Arbor 55
Boardman 55
Council Bluffs 51
Boston 48
Lauterbourg 48
Buffalo 47
Los Angeles 44
Ho Chi Minh City 42
Dong Ket 39
Hanoi 39
Kent 37
Melbourne 37
Helsinki 34
San Diego 28
Jakarta 26
Medford 24
Phoenix 23
Izmir 21
Moscow 20
Falls Church 18
Dallas 17
Shanghai 17
Frankfurt am Main 16
London 16
New York 16
Bern 15
Florence 14
Milan 12
Tokyo 12
Munich 11
Abidjan 10
Norwalk 9
Orem 9
Chennai 8
Da Nang 8
Toronto 8
Verona 8
Atlanta 7
Auburn Hills 7
Chicago 7
Rome 7
São Paulo 7
Tashkent 7
Austin 6
Haiphong 6
Rio de Janeiro 6
Tianjin 6
Vancouver 6
Dearborn 5
Frankfurt Am Main 5
Hillsboro 5
North Bergen 5
Washington 5
Amsterdam 4
Andover 4
Baghdad 4
Can Tho 4
Charlotte 4
Duncan 4
Fuzhou 4
Hải Dương 4
Manaus 4
San Francisco 4
Brooklyn 3
Brussels 3
Casablanca 3
Denver 3
Detroit 3
Elk Grove Village 3
Erbil 3
Guayaquil 3
Johannesburg 3
Kuala Lumpur 3
Montreal 3
Nairobi 3
Nuremberg 3
Ottawa 3
Totale 9.287
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Nome #
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 544
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 368
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 338
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 323
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
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
Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method. 296
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. 293
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 292
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 291
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. 290
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 285
The successful inclusion of succinylacetone as a marker of Tyrosinemia Type I in Tuscany newborn screening program. 284
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry. 277
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 276
The italian XLMR bank: a clinical and molecular database 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
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. 270
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 248
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 247
M. Altered thymidine metabolism due to defects of thymidine phosphorylase. 226
Pre and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS 206
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 200
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 194
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 182
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 170
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants 163
Asymptomatic dystrophinopathy 163
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 162
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs 160
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 160
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
Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples 155
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
PROLONGED EXCLUSIVE BREAST-FEEDING FROM VEGAN MOTHER CAUSING AN ACUTE ONSET OF ISOLATED METHYLMALONIC ACIDURIA DUE TO A MILD MUTASE DEFICIENCY. 151
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 150
Functional studies of new GLA gene mutations leading to conformational fabry disease. 145
EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA. 136
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests 133
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. 132
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 131
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 131
Lethal late onset cblB methylmalonic aciduria. 130
Clinical utility of noninvasive methods in the evaluation of scleroderma lung in pediatric age 128
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. 121
Congenital sialidosis - from hydrops fetalis to hydrocephalus 120
ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 116
MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS. 107
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 106
Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation 98
null 35
Totale 12.443
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Categoria #
all - tutte 28.176
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 28.176
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021151 0 0 0 0 0 0 0 0 0 0 27 124
2021/2022423 11 55 41 10 16 19 25 29 16 31 92 78
2022/20231.063 93 184 76 57 95 192 148 74 89 6 21 28
2023/2024321 23 46 54 16 15 40 19 60 0 8 35 5
2024/20252.488 76 299 147 369 914 333 8 69 106 38 78 51
2025/20262.390 217 333 165 102 231 148 357 169 171 157 340 0
Totale 12.443