ZAMMARCHI, ENRICO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 5.195
NA - Nord America 4.083
AS - Asia 489
OC - Oceania 33
AF - Africa 25
Totale 9.825
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 4.075
PL - Polonia 3.366
RU - Federazione Russa 675
SE - Svezia 272
IE - Irlanda 251
IT - Italia 166
UA - Ucraina 162
SG - Singapore 131
DE - Germania 127
HK - Hong Kong 103
CN - Cina 64
GB - Regno Unito 64
IN - India 63
FI - Finlandia 62
VN - Vietnam 54
AU - Australia 33
ID - Indonesia 25
TR - Turchia 22
CH - Svizzera 17
JO - Giordania 16
SC - Seychelles 12
CI - Costa d'Avorio 10
FR - Francia 10
CA - Canada 8
KR - Corea 6
BE - Belgio 5
LT - Lituania 5
ES - Italia 4
NL - Olanda 4
BD - Bangladesh 3
AT - Austria 2
DZ - Algeria 1
IR - Iran 1
JP - Giappone 1
ME - Montenegro 1
MU - Mauritius 1
NO - Norvegia 1
PT - Portogallo 1
ZA - Sudafrica 1
Totale 9.825
Salva come PNG Salva come JPEG
Città #
Warsaw 3.366
Santa Clara 1.070
Fairfield 474
Jacksonville 275
Dublin 251
Chandler 241
Ashburn 199
Woodbridge 199
Cambridge 195
Seattle 180
Wilmington 168
Houston 156
Singapore 106
Altamura 74
Lawrence 68
Mumbai 61
Hong Kong 58
Princeton 58
Boardman 56
Ann Arbor 55
Boston 44
Dong Ket 39
Kent 33
Melbourne 33
San Diego 28
Jakarta 25
Medford 23
Izmir 22
Beijing 21
Buffalo 18
Falls Church 18
Phoenix 18
Shanghai 17
Bern 16
Florence 14
London 11
Abidjan 10
Moscow 9
Milan 8
Norwalk 8
Verona 8
Auburn Hills 7
Dearborn 5
Frankfurt Am Main 5
Hillsboro 5
Los Angeles 5
New York 5
Andover 4
Duncan 4
Fuzhou 4
Helsinki 4
Toronto 4
Washington 4
Brussels 3
Frankfurt am Main 3
Hefei 3
Ho Chi Minh City 3
Ottawa 3
Redwood City 3
Rome 3
Saint Petersburg 3
Seongnam 3
Tappahannock 3
Yubileyny 3
Aprilia 2
Brasschaat 2
Cedar Knolls 2
Hamburg 2
Maddaloni 2
Munich 2
Naaldwijk 2
Prescot 2
Saint Louis 2
Seoul 2
Vienna 2
West Jordan 2
Acton 1
Aversa 1
Barcelona 1
Boone 1
Brookline 1
Calgary 1
Dallas 1
Egham 1
Gloucester 1
Houghton Regis 1
Kelseyville 1
Kilburn 1
Lanciano 1
Laurel 1
Lausanne 1
Leganés 1
Leicester 1
Lipari 1
Lisbon 1
Mountain View 1
Muizenberg 1
New Bedfont 1
North Bergen 1
Philadelphia 1
Totale 7.870
Salva come PNG Salva come JPEG
Nome #
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
GALNS gene expression profiling in Morquio A patients' fibroblasts 265
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 261
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 260
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. 259
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 259
The successful inclusion of succinylacetone as a marker of Tyrosinemia Type I in Tuscany newborn screening program. 255
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 252
Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method. 251
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 246
Fabry disease in Italy: first epidemiologic and collaborative study 246
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry. 245
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 243
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. 243
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 239
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 237
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 236
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
The italian XLMR bank: a clinical and molecular database 232
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 227
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
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 205
null 197
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 195
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 141
M. Altered thymidine metabolism due to defects of thymidine phosphorylase. 138
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 135
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 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
Asymptomatic dystrophinopathy 125
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 121
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 120
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants 118
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 117
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs 117
Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples 117
PROLONGED EXCLUSIVE BREAST-FEEDING FROM VEGAN MOTHER CAUSING AN ACUTE ONSET OF ISOLATED METHYLMALONIC ACIDURIA DUE TO A MILD MUTASE DEFICIENCY. 115
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
Functional studies of new GLA gene mutations leading to conformational fabry disease. 109
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 106
Lethal late onset cblB methylmalonic aciduria. 105
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests 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
ALTERED THYMIDINE METABOLISM DUE TO DEFECTS OF THYMIDINE PHOSPHOLRYLASE. 99
EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA. 95
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 93
Clinical utility of noninvasive methods in the evaluation of scleroderma lung in pediatric age 85
Congenital sialidosis - from hydrops fetalis to hydrocephalus 85
ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 84
MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS. 81
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 80
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. 73
Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation 72
Pre and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS 64
null 35
Totale 9.855
Salva come PNG Salva come JPEG
Categoria #
all - tutte 20.821
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 20.821
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020985 0 0 0 0 0 187 150 232 138 92 172 14
2020/20211.317 107 124 77 146 60 199 70 113 93 176 27 125
2021/2022426 11 55 41 11 16 19 25 29 16 31 93 79
2022/20231.101 94 185 79 62 95 203 155 75 96 6 21 30
2023/2024338 23 49 57 16 15 45 19 62 0 8 38 6
2024/20252.207 79 309 152 380 949 338 0 0 0 0 0 0
Totale 9.855