Catalogo dei prodotti della ricerca

TOLVE, MANUELA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 919
EU - Europa 341
AS - Asia 106
SA - Sud America 3
AF - Africa 2
Totale 1.371
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 879
IT - Italia 232
SG - Singapore 39
CA - Canada 36
IN - India 35
SE - Svezia 33
CN - Cina 30
FI - Finlandia 15
DE - Germania 9
CZ - Repubblica Ceca 8
GB - Regno Unito 8
IE - Irlanda 6
UA - Ucraina 6
FR - Francia 5
NL - Olanda 5
RU - Federazione Russa 5
BG - Bulgaria 4
BZ - Belize 3
BR - Brasile 2
RO - Romania 2
AR - Argentina 1
BE - Belgio 1
CH - Svizzera 1
ES - Italia 1
JP - Giappone 1
MX - Messico 1
TG - Togo 1
TR - Turchia 1
ZA - Sudafrica 1
Totale 1.371
Salva come PNG Salva come JPEG
Città #
Fairfield 157
Chandler 85
Rome 74
Seattle 63
Woodbridge 62
Ashburn 61
Wilmington 56
Houston 46
Cambridge 41
Ottawa 31
Princeton 27
New York 22
Torre del Greco 20
Dearborn 18
Beijing 17
Lawrence 15
Millbury 15
Plano 15
San Diego 14
San Paolo di Civitate 14
Singapore 12
Ann Arbor 9
Boston 7
Como 7
Norwalk 7
Brno 6
Turin 6
Andover 5
Fremont 5
Phoenix 5
Dublin 4
Giugliano In Campania 4
Moscow 4
San Jose 4
Sofia 4
Toronto 4
Belize City 3
Bloomsbury 3
Bremen 3
Fasano 3
Helsinki 3
Mannheim 3
Vicopisano 3
Washington 3
Angri 2
Bacoli 2
Boardman 2
Carmignano di Brenta 2
Chicago 2
Frosinone 2
Guangzhou 2
Jinan 2
Lappeenranta 2
Los Angeles 2
Milan 2
Montecalvo Irpino 2
Naples 2
Olomouc 2
Palermo 2
Paris 2
San Lazzaro di Savena 2
São Paulo 2
Albuquerque 1
Baotou 1
Belleville 1
Bracciano 1
Buffalo 1
Bühl 1
Cagliari 1
Chongqing 1
Edinburgh 1
Federal 1
Genoa 1
Hangzhou 1
Hefei 1
Istanbul 1
Kiev 1
Kunming 1
Lomé 1
Madrid 1
Mexico City 1
Monahans 1
Monsampolo Del Tronto 1
Muizenberg 1
Munich 1
Nanjing 1
Nanning 1
New Delhi 1
Philadelphia 1
Pune 1
Redwood City 1
Rieti 1
San Francisco 1
San Mateo 1
Simi Valley 1
Solan 1
St Louis 1
Stockholm 1
Tokyo 1
Vigevano 1
Totale 1.044
Salva come PNG Salva come JPEG
Nome #
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation 115
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) 113
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test 103
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder 92
Genetic paradoxes in an italian family with PARK2 multiexon duplication 89
PRICKLE1-related early onset epileptic encephalopathy 89
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142] 85
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 80
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes 75
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies 74
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) 54
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan 51
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT 48
Very early pattern of movement disorders in sepiapterin reductase deficiency. 48
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency 43
null 42
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance 40
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment 38
null 32
null 27
null 21
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism 20
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study 17
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) 16
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene 16
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male 15
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase 14
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency 13
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review 8
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study 4
Totale 1.482
Salva come PNG Salva come JPEG
Categoria #
all - tutte 4.306
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.306
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020277 0 14 8 14 36 42 47 34 30 26 16 10
2020/2021189 9 35 39 12 9 5 4 7 19 23 9 18
2021/2022259 1 18 21 7 42 16 8 23 31 16 39 37
2022/2023291 44 42 10 53 33 22 9 22 34 6 11 5
2023/2024190 9 22 9 19 19 39 4 11 2 21 17 18
2024/202533 29 4 0 0 0 0 0 0 0 0 0 0
Totale 1.482