CINECA IRIS Institutional Research Information System

SPADA, Marco
 Distribuzione geografica
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Continente #
NA - Nord America 3.007
EU - Europa 2.370
AS - Asia 1.112
AF - Africa 38
SA - Sud America 28
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 2
Totale 6.569
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Nazione #
US - Stati Uniti d'America 2.965
CN - Cina 504
IT - Italia 466
SG - Singapore 290
IE - Irlanda 289
DE - Germania 245
FR - Francia 238
SE - Svezia 218
AT - Austria 184
FI - Finlandia 154
UA - Ucraina 145
KR - Corea 116
DK - Danimarca 113
GB - Regno Unito 111
PL - Polonia 64
VN - Vietnam 41
JP - Giappone 39
IN - India 38
CA - Canada 36
NL - Olanda 33
TR - Turchia 31
BR - Brasile 20
NO - Norvegia 20
SN - Senegal 20
ES - Italia 16
PH - Filippine 15
BE - Belgio 13
GR - Grecia 13
RO - Romania 12
AU - Australia 10
HK - Hong Kong 9
TW - Taiwan 9
HR - Croazia 6
HU - Ungheria 6
PT - Portogallo 6
RU - Federazione Russa 6
SA - Arabia Saudita 5
AR - Argentina 4
DZ - Algeria 4
IL - Israele 4
MX - Messico 4
NG - Nigeria 4
CH - Svizzera 3
CI - Costa d'Avorio 3
CO - Colombia 3
KE - Kenya 3
CY - Cipro 2
CZ - Repubblica Ceca 2
EU - Europa 2
ID - Indonesia 2
IR - Iran 2
MA - Marocco 2
MK - Macedonia 2
NZ - Nuova Zelanda 2
PA - Panama 2
AE - Emirati Arabi Uniti 1
BG - Bulgaria 1
BY - Bielorussia 1
CL - Cile 1
LT - Lituania 1
MN - Mongolia 1
MT - Malta 1
MY - Malesia 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
UG - Uganda 1
ZA - Sudafrica 1
Totale 6.569
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Città #
Chandler 508
Beijing 350
Dublin 289
Singapore 219
Vienna 183
Ann Arbor 146
Villeurbanne 134
Houston 120
Jacksonville 114
Ashburn 112
Princeton 105
Nyköping 102
Torino 99
Dearborn 94
Fairfield 94
Medford 89
Wilmington 86
Woodbridge 76
Warsaw 60
Seattle 52
Boston 38
Cambridge 38
Milan 38
Redwood City 37
Turin 35
Pisa 30
Santa Clara 28
Guangzhou 19
Rome 19
Boardman 18
Dong Ket 18
Ivrea 17
Norwalk 16
Tokyo 16
London 15
Stavanger 15
Fremont 12
Hefei 12
Hangzhou 11
New York 11
Shanghai 11
Verona 11
Athens 10
Avellino 10
Toronto 10
Padova 9
Pune 9
San Diego 9
Helsinki 8
Nanjing 8
Zhengzhou 8
Falls Church 7
Hebei 7
Istanbul 7
Jinan 7
Milwaukee 7
Vancouver 7
Waanrode 7
Duncan 6
Kunming 6
Los Angeles 6
Marseille 6
Zagreb 6
Izmir 5
Phoenix 5
San Mateo 5
Abuja 4
Ankara 4
Birmingham 4
Bologna 4
Detroit 4
Edinburgh 4
Lachine 4
Nanchang 4
Napoli 4
Pittsburgh 4
Redmond 4
Ripa Teatina 4
Rotterdam 4
Upper Marlboro 4
Abidjan 3
Amsterdam 3
Berlin 3
Brampton 3
Bucharest 3
Budapest 3
Copenhagen 3
Guiyang 3
Hyderabad 3
Kensington 3
Kew Gardens 3
Kocaeli 3
Lappeenranta 3
Moose Jaw 3
New Delhi 3
Nürnberg 3
Orange 3
Oslo 3
Ottawa 3
Oxford 3
Totale 3.788
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Nome #
Liver transplantation in severe methylmalonic acidemia: the sooner, the better 342
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease 340
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency 329
Atopic dermatitis in a phenylketonuric untreated patient 251
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. 181
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 177
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency 129
Metabolic progression to clinical phenotype in classic Fabry disease 128
Cornea Verticillata and Fabry Disease 117
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study 115
Early liver transplantation for neonatal-onset methylmalonic acidemia 104
NBAS mutations cause acute liver failure: When acetaminophen is not a culprit 91
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype 89
diagnosi biochimica di eterozigosi per la fenilchetonuria. 88
High incidence of later-onset fabry disease revealed by newborn screening 87
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease 87
Genotype-phenotype correlation in dihydropteridine reductase deficiency. 86
Genealogy of breastfeeding 84
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. 81
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 80
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation 78
Early versus late screening for phenylketonuria: a metabolic study. 77
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists 75
Heterogeneity of the MELAS 3243 mutation 74
Genetic testing of hyperphenylalaninemias 74
Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte 73
Transdermal rotigotine in dihydropteridine reductase deficiency 72
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 71
Treatment in tetrahydrobiopterin deficiency 68
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 68
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. 68
Prenatal diagnosis in primary hyperphenylalaninemias. 67
Dopamine agonists in dihydropteridine reductase deficiency 67
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. 66
Dihydropteridine reductase deficiency in man: from biology to treatment. 65
Lysosomal enzyme activities in phenylketonuria. 65
Newborn feeding and screening for phenylketonuria. 64
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 63
Clinical and genetic characterization of Chanarin-Dorfman syndrome. 62
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. 62
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. 61
difetto di diidropteridina reduttasi: struttura genomica del gene QDPR, identificazione di tre nuove mutazioni e correlazioni genotipo-fenotipo. 61
LIVER TRANSPLANT IN A PATIENT WITH LATHOSTEROLOSIS, A DEFECT OF THE CHOLESTEROL BIOSYNTESIS 60
Newborn screening for galactosemia: a 30-year single center experience 59
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. 58
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 57
Early higher dosage of alglucosidase alpha in classic Pompe disease 57
UTILITÀ DELLA BIOPSIA RENALE NELLA DIAGNOSI PRECOCE DELLAMALATTIA DI FABRY 56
Inborn errors of neurotransmitter metabolism: from Phenotype to Genotype 56
Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis 56
Hair anomalies as a sign of mitochondrial disease. 56
Is there a relationship between extensive mongolian spots and inborn errors of metabolism? 55
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. 55
Association between EEG Paroxysmal Abnormalities and Levels of Plasma Amino Acids and Urinary Organic Acids in Children with Autism Spectrum Disorder 54
Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care 53
Zidovudine administration during pregnancy and mitochondrial disease in the offspring 52
Identification of a MELAS patient presenting as intestinal occlusion 52
Tetrahydrobiopterin and phenylketonuria. 52
Genotype-phenotype correlation in phenylketonuria. 51
Hematopoietic stem cell transplantation in Niemann–Pick disease type B monitored by chitotriosidase activity 50
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism 50
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency 49
Playing competitive basketball in face of late-onset pompe disease 48
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. 48
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes. 47
Neonatal diabetes in a patient with IPEX syndrome: an attempt at balancing insulin therapy 47
Phenotyping and treatment of phenylketonuria. 46
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria. 45
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders. 45
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests. 43
Phenotyping of phenylketonuric patients by oral phenylalanine loading. 43
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 43
Later effects of metabolic control in phenylketonuria 41
Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and genotype/fenotype correlation. 40
Mutations and phenotypes in dihydropteridine reductase deficiency in Italy 40
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature 40
null 37
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 37
Hair changes in congenital disorders of glycosylation (CDG type 1). 36
Different strategies in the treatment of dihydropteridine reductase deficiency 36
Differential-Diagnosis of Hyperphenylalaninemia by a Combined Phenylalanine-Tetrahydrobiopterin Loading Test 35
The impact on PKU screeningoutcome of patient genotype and phenotype. 34
Hyperphenylalaninemia and Pterin Metabolism in Serum and Erythrocytes 31
Experience with the Combined Phenylalanine-Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia. 30
Selected screening of tetrahydrobiopterin deficiency with the combined phelilalanine-tetrahydrobiopterin loading test. 30
Monitoring treatment in tetrahydrobiopterin deficiency 24
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder 18
Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study 17
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey 16
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy 14
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia 13
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts 11
A nationwide survey of PMM2-CDG in Italy:high frequency of a mild neurological variant associated with the L32R mutation. 10
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism 10
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature 10
Neonatal phenylalanine wash-out in phenylketonuria 10
Restless legs syndrome in DNAJC12 deficiency 10
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy 10
Risky Behaviors in Adolescent in Patients with AN Admitted to Pediatric Wards during COVID-19 Pandemic: Personality and Psychopathology Correlates 9
ECG-based score estimates the probability to detect Fabry Disease cardiac involvement 9
Totale 6.688
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Categoria #
all - tutte 22.380
article - articoli 0
book - libri 0
conference - conferenze 2.455
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.835
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020816 0 0 59 107 71 141 119 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
2024/2025346 53 260 33 0 0 0 0 0 0 0 0 0
Totale 6.954