Catalogo dei prodotti della ricerca

TOLVE, MANUELA
 Distribuzione geografica
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Continente #
NA - Nord America 975
EU - Europa 409
AS - Asia 183
SA - Sud America 3
AF - Africa 2
Totale 1.572
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Nazione #
US - Stati Uniti d'America 931
IT - Italia 266
SG - Singapore 94
CN - Cina 42
CA - Canada 40
IN - India 35
SE - Svezia 33
FI - Finlandia 19
DE - Germania 18
GB - Regno Unito 11
RU - Federazione Russa 11
ID - Indonesia 10
IE - Irlanda 9
CZ - Repubblica Ceca 8
NL - Olanda 7
FR - Francia 6
UA - Ucraina 6
BE - Belgio 5
BG - Bulgaria 4
BZ - Belize 3
BR - Brasile 2
RO - Romania 2
AL - Albania 1
AR - Argentina 1
AT - Austria 1
CH - Svizzera 1
ES - Italia 1
JP - Giappone 1
MX - Messico 1
TG - Togo 1
TR - Turchia 1
ZA - Sudafrica 1
Totale 1.572
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Città #
Fairfield 157
Rome 98
Chandler 85
Singapore 66
Seattle 63
Woodbridge 62
Ashburn 61
Wilmington 56
Houston 46
Cambridge 41
Santa Clara 35
Ottawa 31
Princeton 27
New York 22
Torre del Greco 20
Beijing 18
Dearborn 18
Lawrence 15
Millbury 15
Plano 15
San Diego 14
San Paolo di Civitate 14
Jakarta 10
Ann Arbor 9
Toronto 8
Boston 7
Como 7
Dublin 7
Norwalk 7
Brno 6
Helsinki 6
Moscow 6
Turin 6
Andover 5
Fremont 5
Milan 5
Phoenix 5
Brussels 4
Falkenstein 4
Frankfurt am Main 4
Giugliano In Campania 4
Naples 4
San Jose 4
Sofia 4
Belize City 3
Bloomsbury 3
Boardman 3
Bremen 3
Fasano 3
Jinan 3
Lappeenranta 3
Mannheim 3
Vicopisano 3
Washington 3
Angri 2
Bacoli 2
Carmignano di Brenta 2
Casalecchio di Reno 2
Chicago 2
Dallas 2
Florence 2
Frosinone 2
Guangzhou 2
Los Angeles 2
Montecalvo Irpino 2
Olomouc 2
Palermo 2
Paris 2
Perm 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
Gerolstein 1
Hangzhou 1
Hefei 1
Istanbul 1
Kiev 1
Kunming 1
Lomé 1
London 1
Madrid 1
Maleo 1
Martinez 1
McLean 1
Mexico City 1
Monahans 1
Monsampolo Del Tronto 1
Muizenberg 1
Munich 1
Nanjing 1
Totale 1.199
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Nome #
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation 116
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) 115
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test 113
PRICKLE1-related early onset epileptic encephalopathy 99
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder 98
Genetic paradoxes in an italian family with PARK2 multiexon duplication 95
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] 89
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes 86
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies 81
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 81
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) 57
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan 57
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT 52
Very early pattern of movement disorders in sepiapterin reductase deficiency. 51
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance 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 47
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment 46
null 42
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism 34
null 32
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study 30
null 27
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene 25
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) 24
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male 24
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency 23
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase 22
null 21
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review 19
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study 12
Caratterizzazione fenotipica ed outcome della forma recessiva di DYT/PARKGCH1 12
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes 9
Totale 1.687
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Categoria #
all - tutte 5.477
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 5.477
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020205 0 0 0 0 0 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
2024/2025238 29 31 27 60 47 44 0 0 0 0 0 0
Totale 1.687