ZAMMARCHI, ENRICO
 Distribuzione geografica
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Continente #
EU - Europa 5.950
NA - Nord America 5.556
AS - Asia 1.630
SA - Sud America 177
OC - Oceania 50
AF - Africa 48
Continente sconosciuto - Info sul continente non disponibili 30
Totale 13.441
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Nazione #
US - Stati Uniti d'America 5.469
PL - Polonia 3.373
RU - Federazione Russa 879
IT - Italia 545
SG - Singapore 477
CN - Cina 348
SE - Svezia 272
IE - Irlanda 248
HK - Hong Kong 214
VN - Vietnam 214
UA - Ucraina 166
DE - Germania 156
BR - Brasile 138
KR - Corea 133
FI - Finlandia 94
IN - India 85
GB - Regno Unito 80
FR - Francia 71
CA - Canada 54
AU - Australia 49
ID - Indonesia 29
TR - Turchia 29
BD - Bangladesh 21
CH - Svizzera 18
JO - Giordania 17
AR - Argentina 13
IQ - Iraq 12
JP - Giappone 12
MX - Messico 12
NL - Olanda 12
SC - Seychelles 12
CI - Costa d'Avorio 10
EC - Ecuador 8
LT - Lituania 8
ES - Italia 7
UZ - Uzbekistan 7
BE - Belgio 6
CO - Colombia 6
MA - Marocco 6
ZA - Sudafrica 6
AT - Austria 4
CL - Cile 4
DZ - Algeria 4
NP - Nepal 4
PR - Porto Rico 4
VE - Venezuela 4
CR - Costa Rica 3
DO - Repubblica Dominicana 3
HN - Honduras 3
KE - Kenya 3
MY - Malesia 3
PH - Filippine 3
PK - Pakistan 3
SA - Arabia Saudita 3
GT - Guatemala 2
IL - Israele 2
JM - Giamaica 2
KZ - Kazakistan 2
OM - Oman 2
PT - Portogallo 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
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
PA - Panama 1
PE - Perù 1
PS - Palestinian Territory 1
PW - Palau 1
RS - Serbia 1
SN - Senegal 1
SV - El Salvador 1
TG - Togo 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 13.411
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Città #
Warsaw 3.372
Santa Clara 1.061
Ashburn 494
Fairfield 474
Singapore 362
Jacksonville 279
Dublin 248
Chandler 237
Woodbridge 199
Cambridge 195
San Jose 183
Seattle 181
Wilmington 168
Hong Kong 166
Houston 161
Seoul 126
Council Bluffs 115
Milan 115
Beijing 79
Altamura 74
Hefei 70
Lawrence 68
The Dalles 68
Mumbai 62
Princeton 59
Boardman 56
Ann Arbor 55
Los Angeles 51
Boston 50
Lauterbourg 49
Buffalo 48
Rome 45
Ho Chi Minh City 43
Hanoi 41
Phoenix 41
Dong Ket 39
Kent 38
Melbourne 38
Helsinki 35
San Diego 29
Jakarta 26
Izmir 24
Medford 24
Moscow 21
New York 20
Florence 19
Shanghai 19
Columbus 18
Dallas 18
Falls Church 18
Naples 18
Frankfurt am Main 17
Bern 16
London 16
Tokyo 12
Munich 11
Toronto 11
Verona 11
Abidjan 10
Orem 10
Springfield 10
Atlanta 9
Bologna 9
Norwalk 9
Austin 8
Catania 8
Chennai 8
Chicago 8
Da Nang 8
São Paulo 8
Turin 8
Auburn Hills 7
Charlotte 7
Miano 7
Tashkent 7
Vancouver 7
Brooklyn 6
Genoa 6
Haiphong 6
Montreal 6
North Bergen 6
Palermo 6
Rio de Janeiro 6
San Francisco 6
Tianjin 6
Washington 6
Amsterdam 5
Brescia 5
Calgary 5
Dearborn 5
Figino 5
Frankfurt Am Main 5
Hillsboro 5
Ottawa 5
Philadelphia 5
Venice 5
Andover 4
Baghdad 4
Bakersfield 4
Brussels 4
Totale 9.867
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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. 568
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 393
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 347
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 342
GALNS gene expression profiling in Morquio A patients' fibroblasts 342
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 334
Fabry disease in Italy: first epidemiologic and collaborative study 330
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 329
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 318
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 317
Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method. 314
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 309
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. 304
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. 304
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 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. 294
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 292
The successful inclusion of succinylacetone as a marker of Tyrosinemia Type I in Tuscany newborn screening program. 291
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 290
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 287
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry. 285
The italian XLMR bank: a clinical and molecular database 283
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 282
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 262
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 261
M. Altered thymidine metabolism due to defects of thymidine phosphorylase. 234
Pre and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS 224
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 223
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 205
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 201
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 196
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 184
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 174
Asymptomatic dystrophinopathy 174
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants 171
PROLONGED EXCLUSIVE BREAST-FEEDING FROM VEGAN MOTHER CAUSING AN ACUTE ONSET OF ISOLATED METHYLMALONIC ACIDURIA DUE TO A MILD MUTASE DEFICIENCY. 170
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 168
Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples 168
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 168
ALTERED THYMIDINE METABOLISM DUE TO DEFECTS OF THYMIDINE PHOSPHOLRYLASE. 167
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 167
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 165
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 164
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs 163
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. 160
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 160
Functional studies of new GLA gene mutations leading to conformational fabry disease. 157
EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA. 149
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests 144
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 141
Lethal late onset cblB methylmalonic aciduria. 139
ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 136
Clinical utility of noninvasive methods in the evaluation of scleroderma lung in pediatric age 135
Congenital sialidosis - from hydrops fetalis to hydrocephalus 135
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. 129
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 122
MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS. 119
Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation 113
null 35
Totale 13.441
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Categoria #
all - tutte 31.273
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 31.273
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022360 0 0 41 11 16 19 25 29 16 31 93 79
2022/20231.082 94 185 78 60 95 197 152 74 91 6 21 29
2023/2024334 23 48 56 16 15 45 19 62 0 8 36 6
2024/20252.533 77 305 150 376 929 340 8 69 107 40 80 52
2025/20262.846 223 347 173 103 240 151 363 170 172 158 342 404
2026/2027437 145 102 190 0 0 0 0 0 0 0 0 0
Totale 13.441