IRIS
CERONE, ROBERTO
 Distribuzione geografica
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Continente #
EU - Europa 4.097
Totale 4.097
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Nazione #
IT - Italia 4.097
Totale 4.097
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Città #
Genova 3.317
Rapallo 490
Genoa 287
Bordighera 3
Totale 4.097
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Nome #
Why do premature newborn infants display elevated blood adenosine levels? 208
Homocysteine, reactive oxygen species and nitric oxide in type 2 diabetes mellitus 147
Phenylketonuria:diet for life or not? 131
Metabolic and genetic risk factors for migraine in children 130
Low total plasma homocysteine concentrations in patients with type 1 diabetes 127
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. 125
Eight new mutations of phenylalanine hydroxilase gene in italian patients with hyperphenylalaninemia 124
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III 122
Clinical presentation and outcome in a series of 88 patients with the cblC defect. 121
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. 120
Plasma and serum total homocysteine concentrations in paediatric patients, evaluated by high-performance liquid chromatography with fluorescence 120
Mild hyperhomocysteinemia: vitamin supplementation or not? 116
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. 114
Genotype-phenotype correlation in dihydropteridine reductase deficiency 110
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency 109
Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure 105
von Willebrand factor multimer composition is modified following oral Methionine load in women with thrombosis, but not in healthy women. 105
Determination of plasma homocysteine by high performance liquid chromatography 104
Management of phenylketonuria in Europe: survey results from 19 countries. 104
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 102
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study 101
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient. 100
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 92
Cobalamin (Cbl)C/D deficiency: clinical, neurophysiological and neuroradiologic finding in 14 cases 92
15 years of screening for BH4 deficiency in the Ligurian Region, Italy 91
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. 90
EARLY-ONSET COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA: NEURORADIOLOGICAL FINDINGS 89
Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis. 88
Mutations in glycine N-methyltransferase give insight into its role in methionine metabolism 87
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. 78
Common criteria among States for storage and use of dried blood spot specimens after newborn screening 71
Neonatal screening for congenital errors of metabolism by means of Tandem Mass: Italian experience 70
Programmi svolti dalla II Clinica Pediatrica. 69
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism 65
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia 65
Trattamento degli errori congeniti in gravidanza: il modello Fenilchetonuria. 55
Livelli di omocisteina plasmatica in pazienti affetti da diabete di tipo 1. 55
Rivisitazione degli screening neonatali di massa per le malattie metaboliche alla luce delle nuove esperienze diagnostiche. 53
Totale 4.111
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Categoria #
all - tutte 8.828
article - articoli 8.265
book - libri 0
conference - conferenze 563
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 17.656
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2023/2024209 9 34 3 29 12 28 10 9 6 2 27 40
2024/20257 7 0 0 0 0 0 0 0 0 0 0 0
Totale 4.111