Catalogo dei prodotti della ricerca

CARDUCCI, Claudia
 Distribuzione geografica
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Continente #
NA - Nord America 4.115
EU - Europa 2.542
AS - Asia 1.067
SA - Sud America 53
AF - Africa 39
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.822
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Nazione #
US - Stati Uniti d'America 4.049
IT - Italia 1.508
SG - Singapore 394
CN - Cina 348
IN - India 296
FI - Finlandia 209
SE - Svezia 187
UA - Ucraina 184
DE - Germania 130
GB - Regno Unito 77
CA - Canada 58
AR - Argentina 48
IE - Irlanda 43
RU - Federazione Russa 34
NL - Olanda 28
TG - Togo 28
BE - Belgio 26
FR - Francia 22
CZ - Repubblica Ceca 18
BG - Bulgaria 13
CH - Svizzera 12
RO - Romania 11
ES - Italia 9
ID - Indonesia 9
MX - Messico 8
ZA - Sudafrica 7
AT - Austria 6
IR - Iran 5
TR - Turchia 5
BA - Bosnia-Erzegovina 4
GR - Grecia 4
JP - Giappone 4
AU - Australia 3
NO - Norvegia 3
CL - Cile 2
CO - Colombia 2
EE - Estonia 2
HU - Ungheria 2
LT - Lituania 2
LU - Lussemburgo 2
NZ - Nuova Zelanda 2
SC - Seychelles 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BN - Brunei Darussalam 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
EU - Europa 1
IL - Israele 1
LI - Liechtenstein 1
MD - Moldavia 1
MK - Macedonia 1
NG - Nigeria 1
PL - Polonia 1
VN - Vietnam 1
Totale 7.822
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Città #
Fairfield 496
Chandler 426
Rome 285
Singapore 268
Beijing 248
Woodbridge 240
Ashburn 201
Houston 184
Wilmington 182
Seattle 167
Princeton 165
Ann Arbor 160
Cambridge 156
Plano 148
Torre del Greco 141
Santa Clara 112
Boston 104
San Paolo di Civitate 77
Lawrence 71
Jacksonville 64
Millbury 59
Milan 58
Boardman 56
Helsinki 49
Federal 48
Andover 45
Dublin 39
San Diego 39
New York 37
Toronto 34
Lomé 28
Norwalk 27
San Mateo 26
Des Moines 23
Falkenstein 23
Monza 23
Dearborn 22
Moscow 21
Falls Church 20
Brno 18
Brussels 16
Ottawa 16
Sofia 13
Bremen 11
Mannheim 11
Torino 11
Buffalo 10
Genova 10
London 10
Turin 10
Dallas 9
Jakarta 9
Padova 9
Munich 8
Waanrode 8
Bühl 7
Civita Castellana 7
Florence 7
Frankfurt am Main 7
Giaveno 7
Naples 7
Catania 6
Las Vegas 6
Mexico City 6
Napoli 6
Palermo 6
Pittsburgh 6
Porto 6
Redwood City 6
Bern 5
Edinburgh 5
Hefei 5
Jinan 5
Kunming 5
La Spezia 5
Muizenberg 5
Pescara 5
Aragona 4
Auburn Hills 4
Bari 4
Bloomsbury 4
Bottrop 4
Brescia 4
Castellammare di Stabia 4
Frosinone 4
Giugliano In Campania 4
Heraklion 4
Messina 4
Monteviale 4
Perugia 4
Pisa 4
Redmond 4
Reggio Calabria 4
Southend 4
Urbino 4
Vicopisano 4
Agotnes 3
Albino 3
Almere Stad 3
Birmingham 3
Totale 4.969
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Nome #
Ruolo delle pterine urinarie nella malattia di Segawa 432
Il trattamento con tetraidrobiopterina (BH4) in pazienti responsivi affetti da deficit di fenilalanina idrossilasi 253
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia 120
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test 113
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria 108
A new therapy prevents intellectual disability in mouse with phenylketonuria 103
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency 102
La variabilità fenotipica nel deficit di 6-piruvoil-tetraidropterina sintasi (PTPS): presentazione ed evoluzione clinica dei pazienti italiani. 99
Executive function impairment in early - treated PKU subjects with normal mental development 96
Deficit di PTPS: esordio tardivo con sindrome rigida-ipocinetica. 94
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study 94
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? 90
Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) 90
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study 89
Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria. 84
Identificazione Di Un Nuovo Caso Di Deficit Di Guanidinoacetato Metiltransferasi (Gamt) Mediante Screening Mirato In Soggetti Sintomatici 83
Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot 81
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 81
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study 80
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism 80
Psychiatric disorders in adolescent and young adult patients with phenylketonuria 79
A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy 77
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency 77
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels 76
Clinical characterization of tremor in patients with phenylketonuria 74
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients 72
A new form of cerebral folate deficiency with severe self-injurious behaviour 70
Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course 69
In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism 67
Automated method for the measurement of amino acids in urine by high-performance liquid chromatography. 66
Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD) 64
Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry 63
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood 62
null 61
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples. 61
The pharmacokinetics of large neutral amino acids (LNAA) in PKU. 60
Il trattamento a lungo termine con tetraidrobiopterina (BH4) di pazienti affetti da deficit di fenilalanina idrossilasi. 59
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency 58
Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency 58
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) 57
Determinazione dell’attività dell’enzima guanidinoacetato metiltrasferasi (GAMT) mediante ESI-MS/MS. 56
Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice 55
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients 54
Newborn screening of galactosemia by tandem mass spectrometry (MS/MS): a pilot study. 53
null 53
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project 53
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT 52
Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 52
Very early pattern of movement disorders in sepiapterin reductase deficiency. 51
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylanine hydroxylase deficiency. 50
Age–related psychophysiological vulnerability to phenylalanine in young-adult phenylketonuric subjects 50
Analisi biochimica e molecolare di un nuovo caso di deficit di guanidinoacetato metiltrasferasi . 50
Enhanced interpretation of newborn screening results without analyte cutoff values 50
A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. 49
The spectrum of movement disorders under 3 years of agein inherited disorders of monoamine metabolism 49
null 49
A New Case Of Guanidinoacetatemethyltransferasi (Gamt) Deficency. Clinical, Molecular And Brain H-P-Magnetic Resonance Spectroscopy (Mrs) Features 47
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
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes 46
SYNTHESIS OF GUANIDINOACETATE AND CREATINE IN NEURONS AND GLIAL CELLS 46
The natural history of l-aminoacid decarboxylase (AADC) deficiency: report of two never treated adult patients. 46
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment 46
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy (1H MRS) in phenylketonuria. J Inher Metab Dis 2000; 23: 563-570 45
White matter involvement and neurocognitive outcome in phenylketonuric (PKU) patients with and without BH4/sapropterin dihydrochloride supplementation 44
A new case of short/branched-chain AcylCoA dehydrigenase deficiency caused by two novel mutations. 44
A NOVEL TYROSINE HYDROXYLASE GENOTYPE ASSOCIATED WITH EARLY ONSET ENCEPHALOPATY. 44
A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening 44
The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (PTPSD). A late diagnosed case 44
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 43
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency presenting as inherited dopa-responsive myoclonus-dystonia syndrome 43
SUCCESSFUL PREGNANCY IN A NEW PATIENT WITH EARLY ONSET DOPA-RESPONSIVE DYSTONIA DUE TO AUTOSOMAL RECESSIVE GTP CYCLOHYDROLASE (AR GTP-CH) DEFICIENCY WITHOUT HYPERPHENYLALANINEMIA 43
Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine 43
The transport of creatine (CR) in the brain: in vitro experiments on rat brain and human cancer cell culture. 42
LONG TERM OUTCOME IN TYROSINE HYDROXYLASE DEFICIENCY- TYPE B: A FIFTEEN YEARS FOLLOW UP IN A MALE PATIENT 42
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC 42
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature 42
EARLY ONSET PARKINSONISM: A NEW CLINICAL AND BIOCHEMICAL PHENOTYPE 41
A rapid method for determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: a new tool for the diagnosis of creatine transport deficiency 41
Dopa-responsive dystonias/dyskinesias (DRDS): diagnosis and monitoring of the treatment 40
TWO NEW SEVERE MUTATIONS CAUSING GUANIDINOACETATE METHYLTRASFERASE DEFICIENCY. 40
EXERCISE-INDUCED DYSTONIA ASSOCIATED WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE (SSADH) DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA) 39
A rapid method for the determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: A new tool for the diagnosis of creatine trasporter deficiency 39
The diagnosis of autosomal dominant Guanosine Triphosphate-Cyclohydrolase 1 Deficiency (Segawa Disease): the combined role of urine pterins and phenylalanine loading test. 39
Treatment Monitoring of Brain Creatine Deficiency Syndromes: a 1H and 31P MR Spectroscopy Study 39
A new case of guanidinoacetate methyltransferase (GAMT) deficiency. Clinical, molecular and brain 1H-31P –Magnetic Resonance Spectroscopy (MRS) features. 38
The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS). A late diagnosed case. 38
Il trattamento del deficit di guanidinoacetato metiltrasferasi (GAMT) 38
Nuovo Caso Di Deficit Di Guanidinoacetato Metiltransferasi (Gamt) Diagnosticato Attraverso Un Programma Di Screening Mirato In Soggetti Sintomatici. 38
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome 38
The treatment of guanidinoacetate methyltransferase (GAMT) deficiency: clinical and biochemical follow-up. 37
6R-BH4/PHE vs 6R-BH4 loading test in PAH deficient patients 37
Derangement of dopaminergic system in PKU: the study of the Event-Related Potential (P300). 37
The phenotypic variability in 6- Pyruvoil- thetrahydrobiopterin synthase Deficiency (PTPSD). Clinical presentation and outcome of the italian patients. 37
Autosomal dominant GTP-cyclohydrolase I deficiency presenting as a DOPA responsive myoclonus-dystonia syndrome 37
NEOPTERIN EXCRETION IN URINE AS POSSIBLE PERIPHERAL MARKER OF SEGAWA DISEASE 36
THE OUTCOME OF EXECUTIVE FUNCTION IMPAIRMENT IN EARLY-TREATED PHENYLKETONURIC (PKU) SUBJECTS 35
Two new mutations on tyrosine hydroxylase gene (TH) presenting as late onset dystonic-dyskinetic syndrome 35
Determinazione dell’attività dell’enzima GAMT mediante ESI-MS/MS 34
Erythrocytes as carriers of phenylalanine ammonia lyase in phenylketonuric (BTBR-Pahenu2) mice 34
Rapid and sensitive high-performance liquid chromatographic method for the analysis of tryptophan, tyrosine and phenylalanine in biological samples. JOURNAL OF CHROMATOGRAPHY B. BIOMEDICAL APPLICATIONS. vol. 553, pp. 149-154 ISSN: 0378-4347. 34
Totale 6.312
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Categoria #
all - tutte 24.256
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 24.256
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020883 0 0 0 0 0 111 112 138 116 229 124 53
2020/2021633 42 68 152 53 26 30 23 48 45 78 48 20
2021/20221.537 8 101 159 35 233 48 31 132 128 115 231 316
2022/20231.713 304 243 60 325 214 171 38 83 142 31 76 26
2023/2024749 66 108 27 60 66 73 30 45 5 90 87 92
2024/2025730 89 128 87 146 126 154 0 0 0 0 0 0
Totale 8.082