CINECA IRIS Institutional Research Information System

PORTA, Francesco
 Distribuzione geografica
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Continente #
NA - Nord America 2.240
EU - Europa 1.565
AS - Asia 844
AF - Africa 26
SA - Sud America 9
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.690
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Nazione #
US - Stati Uniti d'America 2.224
CN - Cina 334
SG - Singapore 309
IT - Italia 286
IE - Irlanda 186
DE - Germania 181
SE - Svezia 176
AT - Austria 160
FR - Francia 159
FI - Finlandia 89
GB - Regno Unito 58
DK - Danimarca 57
KR - Corea 57
UA - Ucraina 52
PL - Polonia 41
NO - Norvegia 35
IN - India 30
VN - Vietnam 23
SN - Senegal 22
JP - Giappone 20
NL - Olanda 20
TR - Turchia 19
ID - Indonesia 17
CA - Canada 14
GR - Grecia 11
RO - Romania 10
BE - Belgio 9
HK - Hong Kong 8
HU - Ungheria 8
BR - Brasile 7
ES - Italia 7
TW - Taiwan 7
PH - Filippine 6
RU - Federazione Russa 6
CH - Svizzera 4
SA - Arabia Saudita 4
AU - Australia 3
CY - Cipro 3
IL - Israele 3
PT - Portogallo 3
AE - Emirati Arabi Uniti 2
EG - Egitto 2
HR - Croazia 2
LT - Lituania 2
LV - Lettonia 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
MN - Mongolia 1
TH - Thailandia 1
Totale 4.690
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Città #
Santa Clara 304
Chandler 265
Singapore 265
Beijing 222
Dublin 186
Vienna 160
Torino 92
Nyköping 83
Houston 79
Ashburn 78
Villeurbanne 71
Ann Arbor 70
Medford 66
Columbus 64
Dearborn 64
Jacksonville 60
Princeton 58
Fairfield 53
Wilmington 49
Woodbridge 43
Warsaw 40
Seattle 35
Turin 34
Stavanger 32
Boston 22
Redwood City 20
Milan 19
Hangzhou 18
Jakarta 17
Rome 16
Cambridge 15
Dong Ket 13
Pune 13
Pisa 12
Norwalk 11
Shanghai 11
Athens 10
London 9
Reston 9
Boardman 8
Guangzhou 8
Tokyo 8
Detroit 7
New York 7
Fremont 6
Jinan 6
Padova 6
San Diego 6
Budapest 5
Hefei 5
Paris 5
Vancouver 5
Falls Church 4
Hebei 4
Helsinki 4
Hong Kong 4
Kunming 4
Nanchang 4
Parma 4
Pittsburgh 4
Rotterdam 4
Toronto 4
Ankara 3
Birmingham 3
Brussels 3
Bucharest 3
Changsha 3
Copenhagen 3
Duncan 3
Frankfurt am Main 3
Guiyang 3
Istanbul 3
Izmir 3
Kew Gardens 3
Kocaeli 3
Mumbai 3
Munich 3
Nanjing 3
New Delhi 3
Nicosia 3
Nürnberg 3
Orange 3
Redmond 3
Upper Marlboro 3
Waanrode 3
Westwood 3
Woodstock 3
Al Qatif 2
Asahi 2
Austin 2
Bochum 2
Bologna 2
Boxtel 2
Calgary 2
Changchun 2
Dubai 2
El Cajon 2
Englewood 2
Henleaze 2
Kensington 2
Totale 2.911
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Nome #
Liver transplantation in severe methylmalonic acidemia: the sooner, the better 356
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency 352
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 191
Metabolic progression to clinical phenotype in classic Fabry disease 137
Early liver transplantation for neonatal-onset methylmalonic acidemia 135
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
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
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease 94
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists 94
Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure. 92
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 84
TMEM199 Deficiency is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation 79
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 78
Breastfeeding effects on newborn screening. 78
Lysosomal enzyme activities in phenylketonuria. 78
Transdermal rotigotine in dihydropteridine reductase deficiency 78
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). 78
Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment. 76
Dopamine agonists in dihydropteridine reductase deficiency 76
The overlap between Sotos and Beckwith-Wiedemann syndromes 75
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. 74
Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. 74
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. 72
Early higher dosage of alglucosidase alpha in classic Pompe disease 71
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 70
Determinants of thyrotropin rise in congenital hypothyroidism 70
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 69
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. 68
Riduzione dell'attività dell'arilsulfatasi B in pazienti affetti da fibrosi cistica 68
Newborn screening for galactosemia: a 30-year single center experience 68
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
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism 59
Feeding the normal newborn: whose art is it? 58
Fracture odds and body mass index in children 58
[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up]. 56
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency 56
Tetrahydrobiopterin and phenylketonuria. 56
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
Hematopoietic stem cell transplantation in Niemann–Pick disease type B monitored by chitotriosidase activity 54
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. 52
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders. 52
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature 52
Remittent hyperammonemia in congenital portosystemic shunt 50
In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis 47
Later effects of metabolic control in phenylketonuria 46
Fractures and skeletal complications should be the gold standard for validation of methods for bone appraisal in pediatrics 45
Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism 39
Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders 36
Neonatal phenylalanine wash-out in phenylketonuria 26
Insulinoma in pediatric tuberous sclerosis complex: a case report 24
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism 21
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects. 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
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia 19
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature 17
Neonatal screening for biotinidase deficiency: A 30-year single center experience 17
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability 16
Unrelated donor marrow transplantation: An update of the experience of the Italian Bone Marrow Transplant Group (GITMO) 16
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 15
Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease 13
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria 13
Short prolactin profile for monitoring treatment in BH4 deficiency 11
The Genetic Landscape and Epidemiology of Phenylketonuria. 9
Obituary for Professor Alberto Ponzone 9
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible? 8
A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU. 8
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies 7
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy 7
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 7
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. 6
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients 6
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism 5
CDKL5 deficiency disorder in males: Five new variants and review of the literature. 4
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey 4
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus 4
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 4
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis. 4
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley syndrome 4
Totale 4.911
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Categoria #
all - tutte 16.124
article - articoli 0
book - libri 0
conference - conferenze 475
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 16.599
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020246 0 0 0 0 0 0 77 30 39 37 42 21
2020/2021316 31 16 18 16 32 15 18 21 24 31 55 39
2021/2022470 14 8 21 50 17 16 11 60 16 24 107 126
2022/2023835 67 52 32 80 73 244 56 46 95 22 49 19
2023/2024428 56 59 21 21 23 60 10 17 1 15 32 113
2024/2025940 14 150 62 135 498 80 1 0 0 0 0 0
Totale 4.911