BURLINA, ALBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 3.017
AS - Asia 2.502
EU - Europa 1.296
SA - Sud America 585
AF - Africa 578
OC - Oceania 48
Continente sconosciuto - Info sul continente non disponibili 22
Totale 8.048
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Nazione #
US - Stati Uniti d'America 2.732
SG - Singapore 915
HK - Hong Kong 686
BR - Brasile 410
CN - Cina 258
IT - Italia 188
PL - Polonia 123
DE - Germania 117
VN - Vietnam 95
RU - Federazione Russa 86
NL - Olanda 80
FR - Francia 76
FI - Finlandia 59
GB - Regno Unito 53
AT - Austria 52
SE - Svezia 44
CI - Costa d'Avorio 38
IQ - Iraq 33
KR - Corea 32
TR - Turchia 30
MA - Marocco 29
AR - Argentina 28
IN - India 27
MX - Messico 25
ES - Italia 24
IE - Irlanda 23
UA - Ucraina 23
CO - Colombia 22
SN - Senegal 22
VE - Venezuela 22
DO - Repubblica Dominicana 21
MK - Macedonia 21
AE - Emirati Arabi Uniti 20
EC - Ecuador 20
MN - Mongolia 20
TN - Tunisia 20
UZ - Uzbekistan 20
AO - Angola 19
BE - Belgio 19
CA - Canada 19
LC - Santa Lucia 19
SI - Slovenia 19
YE - Yemen 19
BB - Barbados 18
GM - Gambi 18
JM - Giamaica 18
NP - Nepal 18
PE - Perù 18
RO - Romania 18
SA - Arabia Saudita 18
ZA - Sudafrica 18
CZ - Repubblica Ceca 17
NG - Nigeria 17
TJ - Tagikistan 17
TT - Trinidad e Tobago 17
AZ - Azerbaigian 16
CY - Cipro 16
EG - Egitto 16
HU - Ungheria 16
ID - Indonesia 16
IL - Israele 16
NI - Nicaragua 16
PK - Pakistan 16
RS - Serbia 16
SK - Slovacchia (Repubblica Slovacca) 16
SO - Somalia 16
BG - Bulgaria 15
BY - Bielorussia 15
GA - Gabon 15
GE - Georgia 15
KE - Kenya 15
LB - Libano 15
LV - Lettonia 15
RW - Ruanda 15
TW - Taiwan 15
TZ - Tanzania 15
ZM - Zambia 15
AD - Andorra 14
BO - Bolivia 14
CH - Svizzera 14
EE - Estonia 14
MG - Madagascar 14
NC - Nuova Caledonia 14
PT - Portogallo 14
PY - Paraguay 14
UY - Uruguay 14
CR - Costa Rica 13
CV - Capo Verde 13
DK - Danimarca 13
ET - Etiopia 13
GT - Guatemala 13
HN - Honduras 13
IR - Iran 13
JP - Giappone 13
KH - Cambogia 13
ME - Montenegro 13
MU - Mauritius 13
MW - Malawi 13
PH - Filippine 13
PR - Porto Rico 13
Totale 7.469
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Città #
Hong Kong 667
Singapore 541
Fairfield 293
Ashburn 220
Ann Arbor 194
Boardman 189
Chandler 172
Woodbridge 165
Houston 136
Seattle 119
Santa Clara 111
Bytom 100
Cambridge 93
Wilmington 89
Hefei 86
Buffalo 76
Los Angeles 70
Beijing 46
Jacksonville 40
Abidjan 37
San Diego 37
Princeton 36
Ho Chi Minh City 34
Vienna 33
Munich 31
Hanoi 30
São Paulo 28
Helsinki 26
Medford 26
Nuremberg 26
Dakar 22
New York 22
Seoul 21
Des Moines 20
London 20
Tashkent 20
Ulan Bator 19
Castries 18
Milan 18
Bridgetown 17
Dublin 17
Dushanbe 17
Luanda 17
Managua 16
Nanjing 16
Roxbury 16
Amsterdam 15
Baku 15
Kigali 15
Lusaka 15
Libreville 14
Montevideo 14
Sanaa 14
Warsaw 14
Andorra la Vella 13
Dar es Salaam 13
Kampala 13
Nairobi 13
Accra 12
Amman 12
Antananarivo 12
Bamako 12
Boston 12
Kingston 12
Noumea 12
Phnom Penh 12
Riga 12
Djibouti 11
Havana 11
Lilongwe 11
Nassau 11
Padova 11
Rio de Janeiro 11
Sofia 11
Toronto 11
Banjul 10
Bologna 10
Casablanca 10
Johannesburg 10
Lahore 10
Lima 10
Ljubljana 10
Maputo 10
Podgorica 10
Praia 10
Riyadh 10
Santo Domingo 10
Tbilisi 10
Addis Ababa 9
Baghdad 9
Chisinau 9
Lagos 9
Ogden 9
Panama City 9
Papeete 9
Redondo Beach 9
Stockholm 9
Tallinn 9
Tunis 9
Windhoek 9
Totale 4.649
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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 197
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 181
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: An illustrative case to discuss the concept of carbohydrate responsiveness 164
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 156
Serum elastase 1 in chronic pancreatic disease 148
Oxidative metabolism of dopamine: A colour reaction from human midbrain analysed by mass spectrometry 147
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus 133
High level of oxysterols in neonatal cholestasis: A pitfall in analysis of biochemical markers for Niemann-Pick type C disease 125
Tissue polypeptide antigen (TPA) in pancreatic cancer diagnosis 123
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy 121
Mucopolysaccharidosis type VII diagnosed from a peripheral blood smear 117
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? 116
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 114
ETHE1 mutations are specific to ethylmalonic encephalopathy 114
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy 113
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type i 110
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions 110
VADEMECUM METABOLICUM 109
CA 19‐9 and carcinoembryonic antigen in pancreatic cancer diagnosis 106
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 100
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus 97
Interaction of Fructose 1,6 diphosphate with human red cell membrane 97
Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications 97
Fluorescence energy transfer immunoassay of digoxin in serum. 95
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature 86
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 85
Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review 85
[Blood CA 19-9 in the diagnosis of carcinoma of the pancreas: a critical approach]. 84
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 79
Carbohydrate antigen 19-9 (CA 19-9) and carcinoembryonic antigen (CEA) in pancreatic cancer. Role of age and liver dysfunction. 71
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature 69
Seroprevalence of SARS-CoV-2 antibodies in Italy in newborn dried blood spots 64
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel 60
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience 60
Global developmental delay, osteopenia and ectodermal defect: A new syndrome 56
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy 56
N-acetylaspartylglutamate in Canavan disease: An adverse effector? 53
Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening 53
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I 53
Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients 51
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience 50
[Early diagnosis of myocardial infarct: value of the combined use of creatine kinase and MB isoenzyme determinations]. 50
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu 50
LA COMUNICAZIONE AL BAMBINO CON MALATTIA METABOLICA EREDITARIA 48
Phenylketonuria 48
Diagnosis and management of glutaric aciduria type I - revised recommendations 47
Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy 47
Oxidative metabolism of dopamine: a color reaction analysed by mass spectrometry 46
vademecum metabolicum 44
Dopamine peroxidation: new evidences from human cerebellum 44
An atypical form of pyruvate carboxylase deficiency 43
Characterization of phenylketonuria alleles in the Italian population 43
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation 43
Delphi panel experts’ group; Spagnoli C. Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus 43
Combine phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency [5] 43
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency 42
ENZIMOPATIE CONGENITE 42
VADEMECUM METABOLICUM 42
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient 42
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency [1] 42
Dopamine peroxidation: A color reaction from human midbrain analysed by mass spectrometry 42
DIAGNOSTICA BIOTECNOLOGICA DELLE MALATTIE METABOLICHE 41
Italian national consensus statement on management and pharmacological treatment of phenylketonuria. 41
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction 41
Management of acute infectious diarrhea in childhood 40
INDAGINE GENETICHE IN PEDIATRIA 40
Adenosine deaminase isoenzymes in serum: An improved spectrophotometric method 40
Il laboratorio nell'età pediatrica 39
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort 39
BIOCHEMICAL DIAGNOSIS OF CONGENITAL LYSOSOMAL DISEASES 38
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM 38
Behaviour of some lysosomal enzymes in the plasma of insulin dependent diabetic patients during artificial pancreas treatment 38
The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria 38
Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case 38
Allopurinol challange test: A screening method for ornithine transcarbamylase deficiency 38
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease 38
Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU) 38
Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases 38
DISORDINI DEL METABOLISMO DEL COLLAGENE 37
Behaviour of several enzymes of lysosomal origin in human plasma during whole blood staorage 37
Apparent diffusion coefficinet restriction in the white matter: going beyond acute brain territorial ischemia 37
Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine 37
SCREENING FOR GLUCOSE-6-PHOSPHATE DEGYDROGENASE DEFICIENCY IN NORTH-EAST ITALY 37
Serum enzymes of lysosomal origin as indicators of the metabolic control in non-insulin-dependent diabetics 36
Circadian and circannual rhythms of several enzymes of lysosomal origin in human plasma 36
Pilot study of newborn screening for six lysosomal diseases in Brazil 36
Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients 36
Calcium and phosphorus in relation to the water for diluting milk in the 1st months of life 36
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency 36
ENZIMATOPATIE CONGENITE 36
TREATMENT OF ORGANIC ACIDURIAS 35
Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease 35
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis 35
MALATTIE METABOLICHE EREDITARIE IN ETA' PEDIATRICA 34
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency 33
PLASMA CARNITINE EVALUATION IN CHILDREN WITH CARDIOMYOPATHY 33
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency 33
N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease 33
Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect 32
Serum enzymes of lysosomal origin as indicators of the metabolic control in non-insulin dependent diabetics 32
Totale 6.431
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Categoria #
all - tutte 34.360
article - articoli 29.994
book - libri 538
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 3.414
Totale 68.306
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021327 0 0 9 92 12 16 4 30 43 46 45 30
2021/2022406 13 65 20 32 16 49 19 26 30 12 44 80
2022/2023458 56 40 8 48 40 46 0 27 155 12 15 11
2023/2024429 18 26 29 37 26 26 20 25 24 13 86 99
2024/20252.974 7 274 114 89 295 34 102 261 382 153 479 784
2025/20262.801 399 778 1.624 0 0 0 0 0 0 0 0 0
Totale 8.220