IRIS
CERONE, ROBERTO
 Distribuzione geografica
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Continente #
EU - Europa 5.177
AS - Asia 447
NA - Nord America 260
SA - Sud America 28
AF - Africa 10
Totale 5.922
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Nazione #
IT - Italia 5.101
US - Stati Uniti d'America 246
SG - Singapore 194
CN - Cina 149
VN - Vietnam 57
FR - Francia 42
BR - Brasile 19
HK - Hong Kong 18
CH - Svizzera 9
DE - Germania 8
AR - Argentina 7
CA - Canada 6
FI - Finlandia 6
IN - India 4
JP - Giappone 4
BD - Bangladesh 3
IQ - Iraq 3
MX - Messico 3
AZ - Azerbaigian 2
DO - Repubblica Dominicana 2
GB - Regno Unito 2
ID - Indonesia 2
JM - Giamaica 2
KE - Kenya 2
MY - Malesia 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
TN - Tunisia 2
AT - Austria 1
BH - Bahrain 1
BS - Bahamas 1
CG - Congo 1
DZ - Algeria 1
EC - Ecuador 1
EG - Egitto 1
ES - Italia 1
IE - Irlanda 1
KR - Corea 1
MA - Marocco 1
MU - Mauritius 1
NL - Olanda 1
PE - Perù 1
PH - Filippine 1
PL - Polonia 1
PS - Palestinian Territory 1
QA - Qatar 1
RS - Serbia 1
TH - Thailandia 1
UA - Ucraina 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 5.922
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Città #
Genova 3.317
Genoa 939
Rapallo 490
Vado Ligure 339
San Jose 105
Singapore 85
Lauterbourg 40
Ashburn 22
Ho Chi Minh City 17
Hong Kong 17
Beijing 15
Santa Clara 15
New York 14
Tianjin 11
Hanoi 9
Zurich 9
Frankfurt am Main 8
Haiphong 8
Helsinki 6
Orem 5
Tokyo 4
Bordighera 3
Dallas 3
Florence 3
Miami 3
Toronto 3
Baku 2
Biên Hòa 2
Cardiff 2
Cascina 2
Changsha 2
Chennai 2
Chicago 2
Denver 2
Hải Dương 2
Mexico City 2
Mosul 2
Nairobi 2
Necochea 2
Philadelphia 2
Queens 2
Quảng Ngãi 2
Riyadh 2
Tunis 2
Alexandria 1
Assis 1
Athol 1
Atlanta 1
Baghdad 1
Belgrade 1
Benito Juarez 1
Berazategui 1
Bialystok 1
Brasília 1
Brazzaville 1
Bricktown 1
Brooklyn 1
Brusciano 1
Bình Dương 1
Cachoeira do Sul 1
Cagliari 1
Can Tho 1
Cao Lanh 1
Casablanca 1
Chapecó 1
Charlotte 1
Conselheiro Lafaiete 1
Converse 1
Cruz das Almas 1
Da Nang 1
Des Moines 1
Doha 1
Dublin 1
Edison 1
Elizabeth 1
Florianópolis 1
Fort Lauderdale 1
Freeport 1
Garín 1
Glen Ellyn 1
Greater Sudbury 1
Guangzhou 1
Guayaquil 1
Hangzhou 1
Huancavelica 1
Igarapé-Açu 1
Ilhéus 1
Imperatriz 1
Irvine 1
Jacareí 1
Jakarta 1
Jales 1
Johannesburg 1
Jundiaí 1
Kemerovo 1
Kingston 1
Krum 1
Kuala Lumpur 1
Kyiv 1
Ladysmith 1
Totale 5.582
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Nome #
Why do premature newborn infants display elevated blood adenosine levels? 272
Homocysteine, reactive oxygen species and nitric oxide in type 2 diabetes mellitus 223
Clinical presentation and outcome in a series of 88 patients with the cblC defect. 185
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. 179
Eight new mutations of phenylalanine hydroxilase gene in italian patients with hyperphenylalaninemia 176
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. 170
Plasma and serum total homocysteine concentrations in paediatric patients, evaluated by high-performance liquid chromatography with fluorescence 169
Determination of plasma homocysteine by high performance liquid chromatography 168
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 168
Phenylketonuria:diet for life or not? 165
Metabolic and genetic risk factors for migraine in children 165
Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure 159
Genotype-phenotype correlation in dihydropteridine reductase deficiency 157
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency 157
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III 156
Mild hyperhomocysteinemia: vitamin supplementation or not? 154
Low total plasma homocysteine concentrations in patients with type 1 diabetes 152
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study 150
Cobalamin (Cbl)C/D deficiency: clinical, neurophysiological and neuroradiologic finding in 14 cases 149
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient. 146
15 years of screening for BH4 deficiency in the Ligurian Region, Italy 145
EARLY-ONSET COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA: NEURORADIOLOGICAL FINDINGS 143
von Willebrand factor multimer composition is modified following oral Methionine load in women with thrombosis, but not in healthy women. 138
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. 137
Management of phenylketonuria in Europe: survey results from 19 countries. 137
Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis. 137
Fumarate hydratase deficiency. 135
Phenotypic variability,neurological outcome and genetics background of 6-pyruvoil-tetrahydropterin synthase deficiency 133
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 130
Plasma homocysteine concentrations in a school-age population 122
Common criteria among States for storage and use of dried blood spot specimens after newborn screening 121
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. 121
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia 117
Mutations in glycine N-methyltransferase give insight into its role in methionine metabolism 116
Storage and use of residual newborn screening blood samples in Italy 115
Programmi svolti dalla II Clinica Pediatrica. 103
Livelli di omocisteina plasmatica in pazienti affetti da diabete di tipo 1. 102
Neonatal screening for congenital errors of metabolism by means of Tandem Mass: Italian experience 98
Trattamento degli errori congeniti in gravidanza: il modello Fenilchetonuria. 90
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism 90
Rivisitazione degli screening neonatali di massa per le malattie metaboliche alla luce delle nuove esperienze diagnostiche. 86
Totale 5.936
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Categoria #
all - tutte 15.368
article - articoli 14.296
book - libri 0
conference - conferenze 1.072
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 30.736
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202126 0 0 0 0 0 0 0 0 0 0 0 26
2021/2022472 7 19 24 67 21 41 26 120 24 45 12 66
2022/2023564 45 52 9 69 85 105 1 63 89 5 38 3
2023/2024209 9 34 3 29 12 28 10 9 6 2 27 40
2024/2025695 9 71 38 35 102 105 42 94 24 26 83 66
2025/20261.137 185 41 40 46 202 114 214 47 61 89 57 41
Totale 5.936