CINECA IRIS Institutional Research Information System

SPADA, Marco
 Distribuzione geografica
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Continente #
NA - Nord America 3.746
EU - Europa 2.489
AS - Asia 1.510
AF - Africa 39
SA - Sud America 33
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 2
Totale 7.833
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Nazione #
US - Stati Uniti d'America 3.700
SG - Singapore 591
CN - Cina 530
IT - Italia 522
IE - Irlanda 289
FR - Francia 257
DE - Germania 256
SE - Svezia 218
AT - Austria 185
FI - Finlandia 156
UA - Ucraina 146
GB - Regno Unito 124
KR - Corea 116
DK - Danimarca 113
PL - Polonia 64
ID - Indonesia 54
NL - Olanda 46
IN - India 43
VN - Vietnam 42
CA - Canada 40
JP - Giappone 39
TR - Turchia 34
BR - Brasile 22
NO - Norvegia 20
SN - Senegal 20
ES - Italia 16
PH - Filippine 15
BE - Belgio 13
GR - Grecia 13
AU - Australia 12
RO - Romania 12
HK - Hong Kong 10
TW - Taiwan 9
SA - Arabia Saudita 8
AR - Argentina 7
HR - Croazia 6
HU - Ungheria 6
PT - Portogallo 6
RU - Federazione Russa 6
CH - Svizzera 5
IL - Israele 5
DZ - Algeria 4
MX - Messico 4
NG - Nigeria 4
AE - Emirati Arabi Uniti 3
CI - Costa d'Avorio 3
CO - Colombia 3
CY - Cipro 3
IR - Iran 3
KE - Kenya 3
CZ - Repubblica Ceca 2
EU - Europa 2
MA - Marocco 2
MK - Macedonia 2
NZ - Nuova Zelanda 2
PA - Panama 2
SK - Slovacchia (Repubblica Slovacca) 2
BG - Bulgaria 1
BY - Bielorussia 1
CL - Cile 1
EG - Egitto 1
LK - Sri Lanka 1
LT - Lituania 1
MN - Mongolia 1
MT - Malta 1
MY - Malesia 1
PS - Palestinian Territory 1
TH - Thailandia 1
UG - Uganda 1
ZA - Sudafrica 1
Totale 7.833
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Città #
Singapore 510
Chandler 508
Santa Clara 391
Beijing 351
Dublin 289
Vienna 183
Ann Arbor 146
Columbus 137
Villeurbanne 134
Houston 120
Ashburn 119
Jacksonville 114
Princeton 105
Nyköping 102
Torino 99
Dearborn 94
Fairfield 94
Medford 89
Wilmington 86
Woodbridge 76
Warsaw 60
Jakarta 54
Seattle 54
Turin 44
Milan 42
Boston 38
Cambridge 38
Redwood City 37
Pisa 30
Rome 29
Guangzhou 21
Boardman 18
Dong Ket 18
Ivrea 17
London 16
Norwalk 16
Tokyo 16
Stavanger 15
Fremont 12
Hangzhou 12
Hefei 12
Pune 12
Shanghai 12
Messina 11
New York 11
Verona 11
Athens 10
Avellino 10
Helsinki 10
Paris 10
Toronto 10
Padova 9
Reston 9
San Diego 9
Zhengzhou 9
Nanjing 8
Ankara 7
Falls Church 7
Hebei 7
Istanbul 7
Jinan 7
Los Angeles 7
Milwaukee 7
Vancouver 7
Waanrode 7
Amsterdam 6
Duncan 6
Kunming 6
Marseille 6
Zagreb 6
Izmir 5
Munich 5
Phoenix 5
San Mateo 5
Abuja 4
Birmingham 4
Bologna 4
Detroit 4
Edinburgh 4
Lachine 4
Mumbai 4
Nanchang 4
Napoli 4
Ottawa 4
Pittsburgh 4
Redmond 4
Ripa Teatina 4
Rotterdam 4
Upper Marlboro 4
Abidjan 3
Belén de Escobar 3
Berlin 3
Brampton 3
Bucharest 3
Budapest 3
Chengdu 3
Copenhagen 3
Dubai 3
Falkenstein 3
Guiyang 3
Totale 4.703
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Nome #
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease 359
Liver transplantation in severe methylmalonic acidemia: the sooner, the better 354
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency 352
Atopic dermatitis in a phenylketonuric untreated patient 271
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 191
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. 190
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency 140
Metabolic progression to clinical phenotype in classic Fabry disease 136
Early liver transplantation for neonatal-onset methylmalonic acidemia 133
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study 129
Cornea Verticillata and Fabry Disease 127
High incidence of later-onset fabry disease revealed by newborn screening 102
NBAS mutations cause acute liver failure: When acetaminophen is not a culprit 102
Genotype-phenotype correlation in dihydropteridine reductase deficiency. 98
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype 97
Genealogy of breastfeeding 95
diagnosi biochimica di eterozigosi per la fenilchetonuria. 94
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease 93
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. 91
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists 91
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 90
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation 86
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 84
Early versus late screening for phenylketonuria: a metabolic study. 84
Heterogeneity of the MELAS 3243 mutation 83
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 78
Lysosomal enzyme activities in phenylketonuria. 78
Genetic testing of hyperphenylalaninemias 78
Transdermal rotigotine in dihydropteridine reductase deficiency 78
Newborn feeding and screening for phenylketonuria. 77
Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte 77
Treatment in tetrahydrobiopterin deficiency 75
Dopamine agonists in dihydropteridine reductase deficiency 75
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. 74
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. 74
Prenatal diagnosis in primary hyperphenylalaninemias. 74
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. 74
Dihydropteridine reductase deficiency in man: from biology to treatment. 73
difetto di diidropteridina reduttasi: struttura genomica del gene QDPR, identificazione di tre nuove mutazioni e correlazioni genotipo-fenotipo. 72
LIVER TRANSPLANT IN A PATIENT WITH LATHOSTEROLOSIS, A DEFECT OF THE CHOLESTEROL BIOSYNTESIS 71
Early higher dosage of alglucosidase alpha in classic Pompe disease 71
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 70
Clinical and genetic characterization of Chanarin-Dorfman syndrome. 69
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 69
Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis 69
Association between EEG Paroxysmal Abnormalities and Levels of Plasma Amino Acids and Urinary Organic Acids in Children with Autism Spectrum Disorder 69
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. 68
Newborn screening for galactosemia: a 30-year single center experience 68
UTILITÀ DELLA BIOPSIA RENALE NELLA DIAGNOSI PRECOCE DELLAMALATTIA DI FABRY 67
Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care 66
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. 65
Neonatal diabetes in a patient with IPEX syndrome: an attempt at balancing insulin therapy 65
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. 63
Hair anomalies as a sign of mitochondrial disease. 61
Inborn errors of neurotransmitter metabolism: from Phenotype to Genotype 59
Identification of a MELAS patient presenting as intestinal occlusion 59
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism 59
Is there a relationship between extensive mongolian spots and inborn errors of metabolism? 58
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency 56
Tetrahydrobiopterin and phenylketonuria. 56
Zidovudine administration during pregnancy and mitochondrial disease in the offspring 55
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. 55
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria. 54
Phenotyping and treatment of phenylketonuria. 54
Playing competitive basketball in face of late-onset pompe disease 54
Genotype-phenotype correlation in phenylketonuria. 54
Hematopoietic stem cell transplantation in Niemann–Pick disease type B monitored by chitotriosidase activity 54
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders. 52
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes. 51
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature 51
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 49
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium 47
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests. 46
Phenotyping of phenylketonuric patients by oral phenylalanine loading. 46
Later effects of metabolic control in phenylketonuria 46
Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and genotype/fenotype correlation. 45
Mutations and phenotypes in dihydropteridine reductase deficiency in Italy 43
Differential-Diagnosis of Hyperphenylalaninemia by a Combined Phenylalanine-Tetrahydrobiopterin Loading Test 40
Different strategies in the treatment of dihydropteridine reductase deficiency 39
Hair changes in congenital disorders of glycosylation (CDG type 1). 38
The impact on PKU screeningoutcome of patient genotype and phenotype. 38
null 37
Experience with the Combined Phenylalanine-Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia. 37
Hyperphenylalaninemia and Pterin Metabolism in Serum and Erythrocytes 35
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey 33
Selected screening of tetrahydrobiopterin deficiency with the combined phelilalanine-tetrahydrobiopterin loading test. 33
Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study 31
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder 28
Monitoring treatment in tetrahydrobiopterin deficiency 27
Neonatal phenylalanine wash-out in phenylketonuria 26
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy 25
Insulinoma in pediatric tuberous sclerosis complex: a case report 24
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice 24
Risky Behaviors in Adolescent in Patients with AN Admitted to Pediatric Wards during COVID-19 Pandemic: Personality and Psychopathology Correlates 23
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism 21
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy 21
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects. 20
HPN Standard of Care and Long-Term Outcomes of CIF Pediatric Patients: Twenty-Eight Years' Experience in a Reference Center 20
Tyrosine metabolism in health and disease: Slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria 20
Restless legs syndrome in DNAJC12 deficiency 20
Totale 7.603
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Categoria #
all - tutte 27.079
article - articoli 0
book - libri 0
conference - conferenze 2.792
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.871
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020579 0 0 0 0 0 141 119 64 84 63 65 43
2020/2021589 72 28 50 31 62 36 38 34 57 51 63 67
2021/2022748 22 13 24 58 29 35 30 67 30 53 183 204
2022/20231.426 130 89 49 131 151 385 101 82 166 38 71 33
2023/2024798 99 100 46 31 37 71 18 23 2 33 57 281
2024/20251.614 53 260 155 256 772 118 0 0 0 0 0 0
Totale 8.222