ZAMMARCHI, ENRICO
 Distribuzione geografica
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Continente #
EU - Europa 4.580
NA - Nord America 2.855
AS - Asia 301
AF - Africa 15
Totale 7.751
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Nazione #
PL - Polonia 3.366
US - Stati Uniti d'America 2.851
SE - Svezia 272
IE - Irlanda 251
UA - Ucraina 162
IT - Italia 157
DE - Germania 123
HK - Hong Kong 103
RU - Federazione Russa 88
GB - Regno Unito 61
FI - Finlandia 60
CN - Cina 56
VN - Vietnam 54
SG - Singapore 37
TR - Turchia 22
CH - Svizzera 17
JO - Giordania 16
SC - Seychelles 12
FR - Francia 10
KR - Corea 6
CA - Canada 4
ES - Italia 4
NL - Olanda 4
BD - Bangladesh 3
BE - Belgio 2
IN - India 2
AT - Austria 1
DZ - Algeria 1
IR - Iran 1
JP - Giappone 1
ME - Montenegro 1
MU - Mauritius 1
PT - Portogallo 1
ZA - Sudafrica 1
Totale 7.751
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Città #
Warsaw 3.366
Fairfield 474
Jacksonville 275
Dublin 251
Chandler 241
Ashburn 199
Woodbridge 199
Cambridge 195
Seattle 180
Wilmington 168
Houston 156
Altamura 74
Lawrence 68
Hong Kong 58
Princeton 58
Boardman 56
Ann Arbor 55
Boston 44
Dong Ket 39
Kent 33
San Diego 28
Medford 23
Izmir 22
Beijing 21
Singapore 19
Buffalo 18
Falls Church 18
Phoenix 18
Shanghai 17
Bern 16
Florence 14
London 8
Milan 8
Norwalk 8
Verona 8
Auburn Hills 7
Dearborn 5
Frankfurt Am Main 5
Hillsboro 5
Los Angeles 5
Andover 4
Duncan 4
Fuzhou 4
New York 4
Washington 4
Hefei 3
Ho Chi Minh City 3
Redwood City 3
Rome 3
Saint Petersburg 3
Seongnam 3
Tappahannock 3
Toronto 3
Aprilia 2
Brasschaat 2
Cedar Knolls 2
Hamburg 2
Helsinki 2
Maddaloni 2
Naaldwijk 2
Prescot 2
Saint Louis 2
Seoul 2
West Jordan 2
Acton 1
Aversa 1
Barcelona 1
Boone 1
Brookline 1
Calgary 1
Dallas 1
Egham 1
Frankfurt am Main 1
Gloucester 1
Houghton Regis 1
Kelseyville 1
Kilburn 1
Lanciano 1
Laurel 1
Lausanne 1
Leganés 1
Leicester 1
Lipari 1
Lisbon 1
Moscow 1
Mountain View 1
Muizenberg 1
New Bedfont 1
Philadelphia 1
Podgorica 1
Polverara 1
Reggio Calabria 1
Salerno 1
San Jose 1
Spongano 1
Thiene 1
Tokyo 1
Vienna 1
Wandsworth 1
Werdau 1
Totale 6.564
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Nome #
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 245
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 239
GALNS gene expression profiling in Morquio A patients' fibroblasts 233
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 226
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. 225
The successful inclusion of succinylacetone as a marker of Tyrosinemia Type I in Tuscany newborn screening program. 223
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 223
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 218
Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method. 217
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 215
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry. 214
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. 211
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 210
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients 210
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. 207
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 203
Fabry disease in Italy: first epidemiologic and collaborative study 203
Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. 202
The italian XLMR bank: a clinical and molecular database 200
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 200
null 197
Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case 190
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 189
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
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 174
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 152
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. 101
CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 98
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 95
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 94
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 93
Asymptomatic dystrophinopathy 92
M. Altered thymidine metabolism due to defects of thymidine phosphorylase. 87
Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 85
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs 84
Functional studies of new GLA gene mutations leading to conformational fabry disease. 83
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. 82
Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples 79
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 79
PROLONGED EXCLUSIVE BREAST-FEEDING FROM VEGAN MOTHER CAUSING AN ACUTE ONSET OF ISOLATED METHYLMALONIC ACIDURIA DUE TO A MILD MUTASE DEFICIENCY. 78
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants 77
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 77
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 73
Lethal late onset cblB methylmalonic aciduria. 73
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. 71
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests 70
RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance. 70
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. 67
ALTERED THYMIDINE METABOLISM DUE TO DEFECTS OF THYMIDINE PHOSPHOLRYLASE. 62
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 61
EFFECT OF RAMIPRIL IN A PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE I AND NEPHROTIC RANGE PROTEINURIA. 57
ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 51
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 51
MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS. 50
Clinical utility of noninvasive methods in the evaluation of scleroderma lung in pediatric age 49
Congenital sialidosis - from hydrops fetalis to hydrocephalus 49
Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation 41
null 35
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. 29
Pre and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS 26
Totale 7.781
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Categoria #
all - tutte 17.234
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 17.234
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.611 0 214 69 143 200 187 150 232 138 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
2024/2025133 79 54 0 0 0 0 0 0 0 0 0 0
Totale 7.781