BURLINA, ALBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 7.259
AS - Asia 6.913
EU - Europa 2.753
SA - Sud America 1.397
AF - Africa 1.348
OC - Oceania 110
Continente sconosciuto - Info sul continente non disponibili 51
Totale 19.831
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Nazione #
US - Stati Uniti d'America 6.609
SG - Singapore 2.381
CN - Cina 1.052
HK - Hong Kong 885
BR - Brasile 853
VN - Vietnam 668
IT - Italia 435
FR - Francia 293
IN - India 218
PL - Polonia 194
DE - Germania 182
FI - Finlandia 156
RU - Federazione Russa 150
BD - Bangladesh 140
IQ - Iraq 130
NL - Olanda 112
AR - Argentina 111
SE - Svezia 101
TR - Turchia 100
SA - Arabia Saudita 96
GB - Regno Unito 92
PK - Pakistan 88
PH - Filippine 82
AT - Austria 75
ID - Indonesia 74
MX - Messico 73
UA - Ucraina 70
CO - Colombia 68
EC - Ecuador 67
UZ - Uzbekistan 67
VE - Venezuela 66
TN - Tunisia 64
CI - Costa d'Avorio 58
ES - Italia 57
MA - Marocco 55
IE - Irlanda 53
KR - Corea 53
JP - Giappone 52
ZA - Sudafrica 52
AO - Angola 51
AE - Emirati Arabi Uniti 50
EG - Egitto 46
MY - Malesia 45
PY - Paraguay 44
NI - Nicaragua 43
SN - Senegal 43
CL - Cile 42
DO - Repubblica Dominicana 42
CA - Canada 41
ET - Etiopia 41
TH - Thailandia 41
TW - Taiwan 41
BO - Bolivia 40
NP - Nepal 40
UY - Uruguay 40
KE - Kenya 39
MU - Mauritius 39
PE - Perù 39
RS - Serbia 39
YE - Yemen 39
JO - Giordania 38
MN - Mongolia 38
PS - Palestinian Territory 38
CY - Cipro 37
LC - Santa Lucia 37
RO - Romania 37
SK - Slovacchia (Repubblica Slovacca) 37
BW - Botswana 36
BY - Bielorussia 36
IL - Israele 36
JM - Giamaica 36
CH - Svizzera 35
CR - Costa Rica 35
CZ - Repubblica Ceca 35
GA - Gabon 35
HU - Ungheria 35
LV - Lettonia 35
LY - Libia 35
MG - Madagascar 35
AL - Albania 34
BB - Barbados 34
DK - Danimarca 34
GM - Gambi 34
KZ - Kazakistan 34
SI - Slovenia 34
TT - Trinidad e Tobago 34
GE - Georgia 33
HN - Honduras 33
KG - Kirghizistan 33
SO - Somalia 33
TJ - Tagikistan 33
AM - Armenia 32
DJ - Gibuti 32
IR - Iran 32
MD - Moldavia 32
BG - Bulgaria 31
GR - Grecia 31
MK - Macedonia 31
PT - Portogallo 31
UG - Uganda 31
Totale 18.389
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Città #
Singapore 1.399
San Jose 1.167
Hong Kong 831
Ashburn 770
Fairfield 490
Woodbridge 398
Chandler 318
Houston 260
Ann Arbor 249
Boardman 231
Ho Chi Minh City 201
Seattle 198
Hanoi 177
Wilmington 171
Cambridge 166
Lauterbourg 166
Santa Clara 160
Bytom 149
Los Angeles 141
Jacksonville 138
Beijing 105
Hefei 105
Buffalo 94
New York 85
Helsinki 78
Princeton 77
San Diego 61
São Paulo 58
Abidjan 57
Chicago 56
Baghdad 52
Tashkent 52
Vienna 50
Milan 48
Council Bluffs 46
Medford 46
Dakar 43
Dublin 42
Managua 42
Luanda 41
Riyadh 40
Des Moines 38
Lahore 38
Amman 37
Ulan Bator 36
Addis Ababa 35
Castries 35
Nairobi 35
Rome 35
Libreville 34
Montevideo 34
Tokyo 34
Jeddah 33
Nuremberg 33
Munich 32
Antananarivo 31
Bridgetown 31
Dushanbe 31
Kampala 31
Nanjing 31
Frankfurt am Main 30
Guangzhou 30
Da Nang 29
Djibouti 29
Orem 29
Riga 29
Accra 28
Bamako 28
Cotonou 28
Gaborone 28
Rio de Janeiro 28
Baku 27
Phnom Penh 27
Quito 27
Roxbury 27
Dar es Salaam 26
London 26
Nassau 26
Sanaa 26
Bishkek 25
Haiphong 25
Johannesburg 25
Kigali 25
Andorra la Vella 24
Reykjavik 24
Yerevan 24
Chisinau 23
Havana 23
Lusaka 23
Panama City 23
Podgorica 23
San José 23
Sofia 23
Tunis 23
Warsaw 23
Windhoek 23
Amsterdam 22
Conakry 22
Kingston 22
Lima 22
Totale 10.720
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Nome #
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation 290
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 282
Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications 245
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy 239
Serum elastase 1 and immunoreactive trypsin in chronic pancreatic disease: is there any relationship with trypsin inhibitors? 225
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: An illustrative case to discuss the concept of carbohydrate responsiveness 225
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus 214
Fluorescence polarization immunoassay for cyclosporine A determination in whole blood. 213
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? 213
Oxidative metabolism of dopamine: A colour reaction from human midbrain analysed by mass spectrometry 211
ETHE1 mutations are specific to ethylmalonic encephalopathy 207
Serum elastase 1 in chronic pancreatic disease 205
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 203
Mucopolysaccharidosis type VII diagnosed from a peripheral blood smear 202
CA 19-9 and CA 125 determination by immunoluminometric assay. 201
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus 198
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type i 193
Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review 191
High-performance liquid chromatography for cyclosporin measurement: comparison with radioimmunoassay 190
High level of oxysterols in neonatal cholestasis: A pitfall in analysis of biochemical markers for Niemann-Pick type C disease 188
Combined determination of serum CA 19–9 and tissue polypeptide antigen: Why no improvement in pancreatic cancer diagnosis? 183
A rapid, specific enzyme immunoassay for follitropin and lutropin determination. 183
Oxygen derived free radicals in patients with chronic pancreatic and other digestive diseases. 180
VADEMECUM METABOLICUM 179
Tissue polypeptide antigen (TPA) in pancreatic cancer diagnosis 178
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 173
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 172
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature 167
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation 166
Tumor-associated trypsin inhibitor in patients with chronic pancreatic diseases. 166
Assay of pancreatic amylase with use of monoclonal antibodies evaluated 162
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy 159
Interaction of Fructose 1,6 diphosphate with human red cell membrane 158
CA 19‐9 and carcinoembryonic antigen in pancreatic cancer diagnosis 155
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 155
Serum carcinoembryonic antigen in the differential diagnosis of pancreatic cancer: influence of tumour spread, liver impairment, and age. 154
Radioimmunoassay for pepsinogen C 153
ASPARTIC PROTEINASES AND GASTRIN IN THE DIAGNOSIS OF GASTRIC-CANCER AND GASTRIC PRECANCEROUS CHANGES 153
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience 151
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions 150
Biochemical markers of hepatic fibrosis in primary biliary cirrhosis 145
Immunoglobulin A (lambda chains) conjugated with lactate dehydrogenase in serum. 145
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 143
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy 141
Fluorescence energy transfer immunoassay of digoxin in serum. 141
Macrocephaly, subarachnoid fluid collection and glutaric aciduria type I 140
Bronchoalveolar neutrophilia during late asthmatic reactions induced by toluene diisocyanate. 140
Seroprevalence of SARS-CoV-2 antibodies in Italy in newborn dried blood spots 139
New method ('SPAC ET') for free thyroxin in serum evaluated 136
[Blood CA 19-9 in the diagnosis of carcinoma of the pancreas: a critical approach]. 135
An immunological and genetic study on patients with gestational diabetes mellitus. 131
Measurement of pepsinogen group I in endoscopic gastroduodenal biopsies. 129
Trypsin/creatinine clearance ratio and serum immunoreactive trypsin in digestive and pancreatic diseases. 128
Diagnosis and management of glutaric aciduria type I - revised recommendations 127
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature 125
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I 123
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience 120
Cryptogenic chronic active liver disease. Evaluation of serum aminoterminal peptide of type III procollagen as a marker of histological activity 120
Carbohydrate antigen 19-9 (CA 19-9) and carcinoembryonic antigen (CEA) in pancreatic cancer. Role of age and liver dysfunction. 119
Il Ca 19-9 nella diagnosi di carcinoma pancreatico 115
European multicentre evaluation of the ABBOTT Spectrum clinical chemistry analyzer. 114
Valutazione della permeselettività glomerulare con clearance di isoamilasi e alfa-2-macroglobulina 111
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu 109
The role of CEA, CA 19-9 and TPA in the diagnosis of pancreatic cancer. Evaluation by discriminant analysis 107
Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients 105
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) 102
Italian national consensus statement on management and pharmacological treatment of phenylketonuria. 100
Dopamine peroxidation: A color reaction from human midbrain analysed by mass spectrometry 100
N-acetylaspartylglutamate in Canavan disease: An adverse effector? 98
VADEMECUM METABOLICUM 98
vademecum metabolicum 98
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient 97
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation 96
How does liver dysfunction influence serum CA 19-9 in pancreatic cancer? 96
Global developmental delay, osteopenia and ectodermal defect: A new syndrome 94
Oxidative metabolism of dopamine: a color reaction analysed by mass spectrometry 94
Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening 92
The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria 92
[Early diagnosis of myocardial infarct: value of the combined use of creatine kinase and MB isoenzyme determinations]. 90
Delphi panel experts’ group; Spagnoli C. Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus 89
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey 89
Il laboratorio nell'età pediatrica 89
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM 88
Phenylketonuria 87
Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU) 87
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 87
DIAGNOSTICA BIOTECNOLOGICA DELLE MALATTIE METABOLICHE 86
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy 86
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency 86
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy 85
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction 85
LA COMUNICAZIONE AL BAMBINO CON MALATTIA METABOLICA EREDITARIA 84
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency 83
DISORDINI DEL METABOLISMO DEL COLLAGENE 83
Pilot study of newborn screening for six lysosomal diseases in Brazil 83
Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy 83
Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients 83
MALATTIE METABOLICHE EREDITARIE IN ETA' PEDIATRICA 82
Lysosomal enzymes in preterm infants with bronchopulmonary dysplasia: A potential diagnostic marker 82
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort 82
Totale 13.956
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Categoria #
all - tutte 59.840
article - articoli 52.901
book - libri 744
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 5.016
Totale 118.501
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021134 0 0 0 0 0 0 0 0 0 0 77 57
2021/2022740 16 110 60 69 22 75 33 67 40 18 77 153
2022/2023733 110 72 8 84 93 85 0 40 181 13 33 14
2023/2024499 22 38 41 42 27 27 25 32 26 13 96 110
2024/20253.454 7 330 137 110 366 47 117 294 416 166 551 913
2025/202612.439 435 907 2.127 2.212 1.034 630 1.061 1.337 1.523 721 452 0
Totale 20.007