ZAMMARCHI, ENRICO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 5.879
NA - Nord America 5.166
AS - Asia 1.579
SA - Sud America 165
OC - Oceania 49
AF - Africa 47
Totale 12.885
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 5.102
PL - Polonia 3.373
RU - Federazione Russa 858
IT - Italia 522
SG - Singapore 468
CN - Cina 327
SE - Svezia 268
IE - Irlanda 243
HK - Hong Kong 211
VN - Vietnam 210
UA - Ucraina 161
DE - Germania 152
BR - Brasile 132
KR - Corea 130
FI - Finlandia 92
IN - India 81
GB - Regno Unito 76
FR - Francia 69
AU - Australia 48
CA - Canada 40
ID - Indonesia 29
TR - Turchia 26
BD - Bangladesh 21
CH - Svizzera 17
JO - Giordania 16
AR - Argentina 12
IQ - Iraq 12
JP - Giappone 12
MX - Messico 12
NL - Olanda 12
SC - Seychelles 12
CI - Costa d'Avorio 10
LT - Lituania 8
EC - Ecuador 7
ES - Italia 7
UZ - Uzbekistan 7
BE - Belgio 6
MA - Marocco 6
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
CR - Costa Rica 2
GT - Guatemala 2
IL - Israele 2
KZ - Kazakistan 2
OM - Oman 2
PH - Filippine 2
PR - Porto Rico 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
CU - Cuba 1
EG - Egitto 1
ET - Etiopia 1
HN - Honduras 1
HU - Ungheria 1
IR - Iran 1
JM - Giamaica 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
RS - Serbia 1
SN - Senegal 1
TG - Togo 1
Totale 12.885
Salva come PNG Salva come JPEG
Città #
Warsaw 3.372
Santa Clara 1.040
Fairfield 474
Ashburn 473
Singapore 355
Jacksonville 272
Dublin 243
Chandler 232
Woodbridge 199
Cambridge 194
Seattle 181
Wilmington 167
Hong Kong 164
Houston 159
Seoul 123
San Jose 114
Milan 110
Beijing 77
Altamura 74
Lawrence 68
The Dalles 68
Hefei 63
Mumbai 60
Princeton 58
Boardman 56
Ann Arbor 55
Council Bluffs 51
Boston 48
Lauterbourg 48
Buffalo 47
Los Angeles 46
Rome 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 24
Izmir 21
Moscow 20
Florence 19
Falls Church 18
Dallas 17
Shanghai 17
Frankfurt am Main 16
London 16
Naples 16
New York 16
Bern 15
Tokyo 12
Munich 11
Abidjan 10
Toronto 10
Verona 10
Norwalk 9
Orem 9
Atlanta 8
Bologna 8
Catania 8
Chennai 8
Da Nang 8
Turin 8
Auburn Hills 7
Chicago 7
Miano 7
São Paulo 7
Tashkent 7
Austin 6
Charlotte 6
Genoa 6
Haiphong 6
Rio de Janeiro 6
Tianjin 6
Vancouver 6
Brescia 5
Dearborn 5
Figino 5
Frankfurt Am Main 5
Hillsboro 5
Montreal 5
North Bergen 5
Palermo 5
Venice 5
Washington 5
Amsterdam 4
Andover 4
Baghdad 4
Brooklyn 4
Brussels 4
Calgary 4
Can Tho 4
Duncan 4
Fuzhou 4
Hải Dương 4
Manaus 4
Monza 4
Totale 9.550
Salva come PNG Salva come JPEG
Nome #
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 560
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 385
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 343
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 335
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 326
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. 320
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 313
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 310
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 305
Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method. 303
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. 301
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. 300
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 296
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 287
The successful inclusion of succinylacetone as a marker of Tyrosinemia Type I in Tuscany newborn screening program. 286
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. 283
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 283
The italian XLMR bank: a clinical and molecular database 282
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 280
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry. 279
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 278
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 256
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 255
M. Altered thymidine metabolism due to defects of thymidine phosphorylase. 228
Pre and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS 218
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 205
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 198
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 195
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 190
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 176
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 168
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants 167
Asymptomatic dystrophinopathy 167
PROLONGED EXCLUSIVE BREAST-FEEDING FROM VEGAN MOTHER CAUSING AN ACUTE ONSET OF ISOLATED METHYLMALONIC ACIDURIA DUE TO A MILD MUTASE DEFICIENCY. 166
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 162
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs 161
Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples 161
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 160
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 159
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 159
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 158
Functional studies of new GLA gene mutations leading to conformational fabry disease. 154
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. 153
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 149
EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA. 146
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests 142
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 133
Lethal late onset cblB methylmalonic aciduria. 132
ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 130
Clinical utility of noninvasive methods in the evaluation of scleroderma lung in pediatric age 130
Congenital sialidosis - from hydrops fetalis to hydrocephalus 128
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. 124
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 115
MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS. 111
Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation 106
null 35
Totale 12.914
Salva come PNG Salva come JPEG
Categoria #
all - tutte 29.502
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 29.502
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20262.790 217 333 165 102 231 148 357 169 171 157 342 398
2026/202771 71 0 0 0 0 0 0 0 0 0 0 0
Totale 12.914