CINECA IRIS Institutional Research Information System

PORTA, FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.738
EU - Europa 1.484
AS - Asia 654
AF - Africa 26
SA - Sud America 9
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.917
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Nazione #
US - Stati Uniti d'America 1.725
CN - Cina 321
IT - Italia 253
IE - Irlanda 182
SE - Svezia 175
DE - Germania 172
AT - Austria 159
SG - Singapore 143
FR - Francia 140
FI - Finlandia 87
DK - Danimarca 57
KR - Corea 57
GB - Regno Unito 53
UA - Ucraina 52
PL - Polonia 41
NO - Norvegia 35
IN - India 27
VN - Vietnam 23
SN - Senegal 22
JP - Giappone 20
TR - Turchia 19
NL - Olanda 18
ID - Indonesia 17
CA - Canada 11
GR - Grecia 11
RO - Romania 10
BE - Belgio 9
HU - Ungheria 8
BR - Brasile 7
ES - Italia 7
TW - Taiwan 7
PH - Filippine 6
RU - Federazione Russa 6
SA - Arabia Saudita 4
AU - Australia 3
HK - Hong Kong 3
IL - Israele 3
PT - Portogallo 3
CH - Svizzera 2
CY - Cipro 2
EG - Egitto 2
HR - Croazia 2
MX - Messico 2
NZ - Nuova Zelanda 2
AR - Argentina 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CL - Cile 1
EU - Europa 1
KE - Kenya 1
LT - Lituania 1
MN - Mongolia 1
TH - Thailandia 1
Totale 3.917
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Città #
Chandler 265
Beijing 221
Dublin 182
Vienna 159
Singapore 108
Torino 87
Nyköping 82
Ashburn 74
Houston 73
Villeurbanne 71
Ann Arbor 69
Dearborn 64
Medford 64
Jacksonville 60
Princeton 57
Fairfield 47
Wilmington 47
Warsaw 40
Woodbridge 40
Stavanger 32
Seattle 26
Turin 23
Boston 22
Redwood City 20
Santa Clara 20
Hangzhou 17
Jakarta 17
Milan 14
Rome 14
Cambridge 13
Dong Ket 13
Pisa 12
Pune 12
Norwalk 11
Athens 10
Shanghai 10
London 9
Reston 9
Boardman 8
Tokyo 8
Detroit 7
New York 7
Fremont 6
Guangzhou 6
Jinan 6
Padova 6
Budapest 5
Hefei 5
San Diego 5
Vancouver 5
Falls Church 4
Hebei 4
Kunming 4
Nanchang 4
Parma 4
Pittsburgh 4
Rotterdam 4
Ankara 3
Birmingham 3
Brussels 3
Bucharest 3
Changsha 3
Copenhagen 3
Duncan 3
Guiyang 3
Istanbul 3
Izmir 3
Kew Gardens 3
Kocaeli 3
Nanjing 3
New Delhi 3
Nürnberg 3
Orange 3
Redmond 3
Toronto 3
Upper Marlboro 3
Waanrode 3
Westwood 3
Woodstock 3
Al Qatif 2
Asahi 2
Austin 2
Bochum 2
Bologna 2
Boxtel 2
Changchun 2
El Cajon 2
Englewood 2
Helsinki 2
Henleaze 2
Kensington 2
Lund 2
Lübeck 2
Mannheim 2
Memphis 2
Mersin 2
Montréal 2
Morgantown 2
Moriken 2
Mountain View 2
Totale 2.324
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Nome #
Liver transplantation in severe methylmalonic acidemia: the sooner, the better 343
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency 339
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 178
Metabolic progression to clinical phenotype in classic Fabry disease 129
Cornea Verticillata and Fabry Disease 117
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study 117
Early liver transplantation for neonatal-onset methylmalonic acidemia 104
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype 90
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease 87
Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure. 84
Genealogy of breastfeeding 84
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists 76
Transdermal rotigotine in dihydropteridine reductase deficiency 72
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 71
Breastfeeding effects on newborn screening. 69
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 68
Dopamine agonists in dihydropteridine reductase deficiency 67
TMEM199 Deficiency is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation 67
In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31). 67
Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. 66
The overlap between Sotos and Beckwith-Wiedemann syndromes 66
Lysosomal enzyme activities in phenylketonuria. 65
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. 64
Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment. 64
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 63
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. 62
Determinants of thyrotropin rise in congenital hypothyroidism 62
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. 61
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. 59
Newborn screening for galactosemia: a 30-year single center experience 59
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 58
Early higher dosage of alglucosidase alpha in classic Pompe disease 57
Feeding the normal newborn: whose art is it? 54
Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care 53
Fracture odds and body mass index in children 52
Tetrahydrobiopterin and phenylketonuria. 52
Riduzione dell'attività dell'arilsulfatasi B in pazienti affetti da fibrosi cistica 51
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism 50
[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up]. 49
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
Phenotyping and treatment of phenylketonuria. 46
Remittent hyperammonemia in congenital portosystemic shunt 45
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
In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis 43
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. 42
Later effects of metabolic control in phenylketonuria 41
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature 40
Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism 36
Fractures and skeletal complications should be the gold standard for validation of methods for bone appraisal in pediatrics 34
Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders 32
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia 14
Neonatal phenylalanine wash-out in phenylketonuria 14
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature 12
Insulinoma in pediatric tuberous sclerosis complex: a case report 10
Restless legs syndrome in DNAJC12 deficiency 10
Unrelated donor marrow transplantation: An update of the experience of the Italian Bone Marrow Transplant Group (GITMO) 10
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects. 9
Neonatal screening for biotinidase deficiency: A 30-year single center experience 9
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria 9
Tyrosine metabolism in health and disease: Slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria 8
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible? 5
Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease 5
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 5
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability 4
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients 3
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 3
Short prolactin profile for monitoring treatment in BH4 deficiency 2
Totale 4.122
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Categoria #
all - tutte 12.939
article - articoli 0
book - libri 0
conference - conferenze 409
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.348
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020461 0 0 23 78 38 84 77 30 39 34 41 17
2020/2021296 31 9 14 16 30 13 18 19 24 29 55 38
2021/2022462 12 7 21 50 17 15 11 60 16 23 106 124
2022/2023825 66 52 32 80 73 240 52 46 95 22 49 18
2023/2024422 55 58 21 21 23 58 10 17 1 15 32 111
2024/2025209 14 148 47 0 0 0 0 0 0 0 0 0
Totale 4.122