Catalogo dei prodotti della ricerca

CARDUCCI, Carla
 Distribuzione geografica
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Continente #
NA - Nord America 4.341
EU - Europa 2.322
AS - Asia 845
SA - Sud America 58
AF - Africa 39
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.610
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Nazione #
US - Stati Uniti d'America 4.249
IT - Italia 1.388
SG - Singapore 281
IN - India 275
CN - Cina 273
UA - Ucraina 227
SE - Svezia 190
FI - Finlandia 167
CA - Canada 80
DE - Germania 77
GB - Regno Unito 62
AR - Argentina 53
IE - Irlanda 42
NL - Olanda 33
BE - Belgio 26
TG - Togo 26
FR - Francia 25
CZ - Repubblica Ceca 20
BG - Bulgaria 12
CH - Svizzera 12
ES - Italia 10
MX - Messico 9
ZA - Sudafrica 9
RO - Romania 8
IR - Iran 5
BA - Bosnia-Erzegovina 4
GR - Grecia 4
TR - Turchia 4
AT - Austria 3
BZ - Belize 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
BR - Brasile 2
CL - Cile 2
EE - Estonia 2
HK - Hong Kong 2
JP - Giappone 2
RU - Federazione Russa 2
SC - Seychelles 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
BN - Brunei Darussalam 1
DK - Danimarca 1
EC - Ecuador 1
EU - Europa 1
LI - Liechtenstein 1
LU - Lussemburgo 1
MD - Moldavia 1
MK - Macedonia 1
MU - Mauritius 1
NG - Nigeria 1
TW - Taiwan 1
Totale 7.610
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Città #
Fairfield 539
Chandler 445
Woodbridge 279
Rome 260
Ashburn 237
Beijing 231
Houston 224
Seattle 189
Wilmington 178
Singapore 167
Princeton 166
Cambridge 159
Plano 150
Ann Arbor 143
Torre del Greco 131
Boston 100
Jacksonville 84
Lawrence 80
San Paolo di Civitate 66
Millbury 64
Federal 53
Ottawa 50
Dearborn 46
San Diego 43
Boardman 41
Dublin 41
New York 40
Milan 38
Andover 37
Santa Clara 33
Norwalk 32
Lomé 26
Toronto 24
Des Moines 23
Falls Church 23
San Mateo 22
Monza 21
Brno 18
Helsinki 15
Mannheim 14
Waanrode 14
Pittsburgh 12
Sofia 12
Bühl 11
Brussels 10
Buffalo 10
Dallas 10
Genova 10
Torino 10
Florence 9
Como 8
Giugliano In Campania 8
Palermo 8
Bremen 7
Fremont 7
Munich 7
Redmond 7
Redwood City 7
Catania 6
Hefei 6
Porto 6
Venezia 6
Bern 5
Edinburgh 5
Falkenstein 5
La Spezia 5
Laurel 5
Los Angeles 5
Mexico City 5
Muizenberg 5
Naples 5
Napoli 5
Padova 5
Pescara 5
Southend 5
Turin 5
Aragona 4
Bottrop 4
Brescia 4
Castellammare di Stabia 4
Civita Castellana 4
Fasano 4
Frosinone 4
Heraklion 4
Jinan 4
Kunming 4
London 4
Madrid 4
Messina 4
Monteviale 4
Nanjing 4
Paris 4
Perugia 4
Phoenix 4
San Jose 4
Stockholm 4
Vicopisano 4
Agotnes 3
Albino 3
Auburn Hills 3
Totale 4.886
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Nome #
Ruolo delle pterine urinarie nella malattia di Segawa 416
Il trattamento con tetraidrobiopterina (BH4) in pazienti responsivi affetti da deficit di fenilalanina idrossilasi 250
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
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency 99
La variabilità fenotipica nel deficit di 6-piruvoil-tetraidropterina sintasi (PTPS): presentazione ed evoluzione clinica dei pazienti italiani. 95
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study 92
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder 92
Deficit di PTPS: esordio tardivo con sindrome rigida-ipocinetica. 91
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? 87
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] 86
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study 85
Identificazione Di Un Nuovo Caso Di Deficit Di Guanidinoacetato Metiltransferasi (Gamt) Mediante Screening Mirato In Soggetti Sintomatici 82
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 81
Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot 79
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies 79
Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria. 79
Psychiatric disorders in adolescent and young adult patients with phenylketonuria 78
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes 77
A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy 74
Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening 73
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia. 72
A new form of cerebral folate deficiency with severe self-injurious behaviour 69
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia 68
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients 68
Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course 67
Analysis of ras-family proto-oncogenes on DNA extracted from tyroid fine needle aspiration samples by the Polymerase Chain Reaction. 65
Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD) 63
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays 62
Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry 62
Aromatic amino acid decarboxylase deficiency. molecular and metabolic basis and therapeutic outlook 62
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy 61
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 61
null 61
A study of AGAT and GAMT gene polymorphisms in Italian population. 58
Clinical and molecular evaluation of Italian patients affected by Pelizaeus Merzbacher Disease. 58
Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy 57
Il trattamento a lungo termine con tetraidrobiopterina (BH4) di pazienti affetti da deficit di fenilalanina idrossilasi. 57
The Genetic Landscape and Epidemiology of Phenylketonuria 57
Haplogroup effects and recombination of mitochondrial DNA: Novel clues from the analysis of Leber hereditary optic neuropathy pedigrees 57
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) 56
EXON DELETIONS IN PAH GENE IN ITALIAN HYPERPHENYLALANINEMIC PATIENTS 56
LHON mutations in Italian patients affected by multiple sclerosis. 55
Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction 55
Screening of mtDNA mutations in Italian LHON pedigrees. 54
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome 53
Determinazione dell’attività dell’enzima guanidinoacetato metiltrasferasi (GAMT) mediante ESI-MS/MS. 51
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan 51
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients 51
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree 49
LHON mutations in Italian patients affected by multiple sclerosis 49
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT 49
Very early pattern of movement disorders in sepiapterin reductase deficiency. 49
Analisi biochimica e molecolare di un nuovo caso di deficit di guanidinoacetato metiltrasferasi . 48
Newborn screening of galactosemia by tandem mass spectrometry (MS/MS): a pilot study. 47
A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. 47
Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance. 47
The spectrum of movement disorders under 3 years of agein inherited disorders of monoamine metabolism 47
SYNTHESIS OF GUANIDINOACETATE AND CREATINE IN NEURONS AND GLIAL CELLS 46
A study of illegitimate transcripts of phenylalanine hydroxylase gene. 45
Renal transplant in methylmalonic acidemia: could it be the best option? : Report on a case at 10 years and review of the literature. 45
Age–related psychophysiological vulnerability to phenylalanine in young-adult phenylketonuric subjects 44
A New Case Of Guanidinoacetatemethyltransferasi (Gamt) Deficency. Clinical, Molecular And Brain H-P-Magnetic Resonance Spectroscopy (Mrs) Features 44
DNA Elution and Amplification by Polymerase Chain Reaction from Dried Blood Spots. 44
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment 44
Proton MR spectroscopy in Pelizaeus-Merzbacher disease without point mutation in PLP gene 44
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 43
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylanine hydroxylase deficiency. 43
Biomarcatori genomici 43
The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (PTPSD). A late diagnosed case 43
Proton MR spectroscopy in Pelizaeus-Merzbacher disease without point mutation in PLP gene. 42
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency presenting as inherited dopa-responsive myoclonus-dystonia syndrome 42
The natural history of l-aminoacid decarboxylase (AADC) deficiency: report of two never treated adult patients. 42
A new case of short/branched-chain AcylCoA dehydrigenase deficiency caused by two novel mutations. 42
null 42
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance 42
LONG TERM OUTCOME IN TYROSINE HYDROXYLASE DEFICIENCY- TYPE B: A FIFTEEN YEARS FOLLOW UP IN A MALE PATIENT 41
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes 41
A NOVEL TYROSINE HYDROXYLASE GENOTYPE ASSOCIATED WITH EARLY ONSET ENCEPHALOPATY. 41
The transport of creatine (CR) in the brain: in vitro experiments on rat brain and human cancer cell culture. 40
SUCCESSFUL PREGNANCY IN A NEW PATIENT WITH EARLY ONSET DOPA-RESPONSIVE DYSTONIA DUE TO AUTOSOMAL RECESSIVE GTP CYCLOHYDROLASE (AR GTP-CH) DEFICIENCY WITHOUT HYPERPHENYLALANINEMIA 40
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 40
EARLY ONSET PARKINSONISM: A NEW CLINICAL AND BIOCHEMICAL PHENOTYPE 39
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 39
A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening 39
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC 38
The treatment of guanidinoacetate methyltransferase (GAMT) deficiency: clinical and biochemical follow-up. 37
Two novel PAH gene mutations detected in Italian PKU patients. 37
Dopa-responsive dystonias/dyskinesias (DRDS): diagnosis and monitoring of the treatment 37
TWO NEW SEVERE MUTATIONS CAUSING GUANIDINOACETATE METHYLTRASFERASE DEFICIENCY. 37
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 37
Nuovo Caso Di Deficit Di Guanidinoacetato Metiltransferasi (Gamt) Diagnosticato Attraverso Un Programma Di Screening Mirato In Soggetti Sintomatici. 37
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome 37
A new case of guanidinoacetate methyltransferase (GAMT) deficiency. Clinical, molecular and brain 1H-31P –Magnetic Resonance Spectroscopy (MRS) features. 36
The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS). A late diagnosed case. 36
Il trattamento del deficit di guanidinoacetato metiltrasferasi (GAMT) 36
Derangement of dopaminergic system in PKU: the study of the Event-Related Potential (P300). 36
Autosomal dominant GTP-cyclohydrolase I deficiency presenting as a DOPA responsive myoclonus-dystonia syndrome 36
La malattia di Pelizaeus-Merzbacher: dalla clinica alla genetica molecolare. Giornale di Neuropsicofarmacologia 1997; 6: 135-138. 35
Totale 6.177
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Categoria #
all - tutte 22.329
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 22.329
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.103 0 0 0 53 115 152 133 150 112 221 128 39
2020/2021753 54 91 168 62 34 36 21 50 57 100 52 28
2021/20221.522 10 102 149 34 201 44 36 132 163 117 208 326
2022/20231.721 297 240 56 332 212 159 55 88 153 35 73 21
2023/2024714 64 106 28 57 65 78 22 38 5 79 78 94
2024/2025301 78 126 88 9 0 0 0 0 0 0 0 0
Totale 7.892