IRIS
CERONE, ROBERTO
 Distribuzione geografica
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Continente #
EU - Europa 4.022
Totale 4.022
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Nazione #
IT - Italia 4.022
Totale 4.022
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Città #
Genova 3.317
Rapallo 490
Genoa 212
Bordighera 3
Totale 4.022
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Nome #
Why do premature newborn infants display elevated blood adenosine levels? 207
Homocysteine, reactive oxygen species and nitric oxide in type 2 diabetes mellitus 143
Phenylketonuria:diet for life or not? 131
Metabolic and genetic risk factors for migraine in children 129
Low total plasma homocysteine concentrations in patients with type 1 diabetes 126
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. 123
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III 121
Eight new mutations of phenylalanine hydroxilase gene in italian patients with hyperphenylalaninemia 121
Plasma and serum total homocysteine concentrations in paediatric patients, evaluated by high-performance liquid chromatography with fluorescence 119
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. 118
Clinical presentation and outcome in a series of 88 patients with the cblC defect. 116
Mild hyperhomocysteinemia: vitamin supplementation or not? 115
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. 113
Genotype-phenotype correlation in dihydropteridine reductase deficiency 107
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency 106
von Willebrand factor multimer composition is modified following oral Methionine load in women with thrombosis, but not in healthy women. 105
Management of phenylketonuria in Europe: survey results from 19 countries. 103
Determination of plasma homocysteine by high performance liquid chromatography 101
Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure 100
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 99
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient. 98
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study 98
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 93
Plasma homocysteine concentrations in a school-age population 90
Cobalamin (Cbl)C/D deficiency: clinical, neurophysiological and neuroradiologic finding in 14 cases 90
15 years of screening for BH4 deficiency in the Ligurian Region, Italy 89
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. 89
EARLY-ONSET COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA: NEURORADIOLOGICAL FINDINGS 86
Mutations in glycine N-methyltransferase give insight into its role in methionine metabolism 85
Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis. 85
Phenotypic variability,neurological outcome and genetics background of 6-pyruvoil-tetrahydropterin synthase deficiency 84
Storage and use of residual newborn screening blood samples in Italy 79
Fumarate hydratase deficiency. 75
Neonatal screening for congenital errors of metabolism by means of Tandem Mass: Italian experience 70
Programmi svolti dalla II Clinica Pediatrica. 69
Common criteria among States for storage and use of dried blood spot specimens after newborn screening 68
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism 64
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia 62
Trattamento degli errori congeniti in gravidanza: il modello Fenilchetonuria. 55
Rivisitazione degli screening neonatali di massa per le malattie metaboliche alla luce delle nuove esperienze diagnostiche. 52
Livelli di omocisteina plasmatica in pazienti affetti da diabete di tipo 1. 52
Totale 4.036
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Categoria #
all - tutte 8.084
article - articoli 7.577
book - libri 0
conference - conferenze 507
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 16.168
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019221 0 0 0 0 0 0 0 0 0 43 98 80
2019/20201.129 43 29 50 71 99 113 215 67 82 184 139 37
2020/2021356 16 85 53 12 9 34 13 25 30 23 30 26
2021/2022472 7 19 24 67 21 41 26 120 24 45 12 66
2022/2023564 45 52 9 69 85 105 1 63 89 5 38 3
2023/2024141 9 34 3 29 12 28 10 9 6 1 0 0
Totale 4.036