Catalogo dei prodotti della ricerca

CARDUCCI, Carla
 Distribuzione geografica
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Continente #
NA - Nord America 4.442
EU - Europa 2.468
AS - Asia 1.004
SA - Sud America 60
AF - Africa 40
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.019
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Nazione #
US - Stati Uniti d'America 4.346
IT - Italia 1.434
SG - Singapore 381
CN - Cina 321
IN - India 276
UA - Ucraina 227
FI - Finlandia 191
SE - Svezia 190
DE - Germania 98
CA - Canada 84
GB - Regno Unito 70
AR - Argentina 53
IE - Irlanda 42
NL - Olanda 38
RU - Federazione Russa 35
BE - Belgio 31
TG - Togo 26
FR - Francia 25
CZ - Repubblica Ceca 20
BG - Bulgaria 12
CH - Svizzera 12
ES - Italia 10
ID - Indonesia 9
MX - Messico 9
ZA - Sudafrica 9
RO - Romania 8
IR - Iran 5
TR - Turchia 5
BA - Bosnia-Erzegovina 4
GR - Grecia 4
AT - Austria 3
BZ - Belize 3
LT - Lituania 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
BR - Brasile 2
CL - Cile 2
CO - Colombia 2
EE - Estonia 2
HK - Hong Kong 2
JP - Giappone 2
SC - Seychelles 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AU - Australia 1
BN - Brunei Darussalam 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 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 8.019
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Città #
Fairfield 539
Chandler 445
Rome 281
Woodbridge 279
Singapore 265
Ashburn 237
Beijing 232
Houston 224
Seattle 189
Wilmington 178
Princeton 166
Cambridge 159
Plano 150
Ann Arbor 143
Torre del Greco 131
Santa Clara 122
Boston 100
Jacksonville 84
Lawrence 80
San Paolo di Civitate 66
Millbury 64
Federal 53
Ottawa 51
Dearborn 46
San Diego 43
Boardman 41
Dublin 41
Milan 41
New York 40
Helsinki 39
Andover 37
Norwalk 32
Toronto 27
Lomé 26
Des Moines 23
Falls Church 23
San Mateo 22
Falkenstein 21
Monza 21
Brno 18
Moscow 18
Brussels 15
Mannheim 14
Waanrode 14
Pittsburgh 12
Sofia 12
Bühl 11
Buffalo 10
Dallas 10
Genova 10
Torino 10
Florence 9
Jakarta 9
Como 8
Giugliano In Campania 8
London 8
Munich 8
Naples 8
Palermo 8
Bremen 7
Catania 7
Fremont 7
Padova 7
Pescara 7
Redmond 7
Redwood City 7
Hefei 6
Porto 6
Venezia 6
Bern 5
Edinburgh 5
Frankfurt am Main 5
Jinan 5
La Spezia 5
Laurel 5
Los Angeles 5
Mexico City 5
Muizenberg 5
Napoli 5
Southend 5
Turin 5
Aragona 4
Bottrop 4
Brescia 4
Castellammare di Stabia 4
Civita Castellana 4
Fasano 4
Frosinone 4
Heraklion 4
Kunming 4
Madrid 4
Messina 4
Monteviale 4
Nanjing 4
Paris 4
Perugia 4
Phoenix 4
San Jose 4
Stockholm 4
Trieste 4
Totale 5.184
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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 254
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
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
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder 98
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
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
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study 89
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes 86
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
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
Psychiatric disorders in adolescent and young adult patients with phenylketonuria 79
A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy 77
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia. 75
Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening 73
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
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia 70
Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course 69
Analysis of ras-family proto-oncogenes on DNA extracted from tyroid fine needle aspiration samples by the Polymerase Chain Reaction. 68
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
Aromatic amino acid decarboxylase deficiency. molecular and metabolic basis and therapeutic outlook 65
Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD) 64
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays 63
Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry 63
A study of AGAT and GAMT gene polymorphisms in Italian population. 61
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy 61
null 61
EXON DELETIONS IN PAH GENE IN ITALIAN HYPERPHENYLALANINEMIC PATIENTS 60
Il trattamento a lungo termine con tetraidrobiopterina (BH4) di pazienti affetti da deficit di fenilalanina idrossilasi. 59
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 58
Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction 58
The Genetic Landscape and Epidemiology of Phenylketonuria 58
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) 57
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan 57
Haplogroup effects and recombination of mitochondrial DNA: Novel clues from the analysis of Leber hereditary optic neuropathy pedigrees 57
Determinazione dell’attività dell’enzima guanidinoacetato metiltrasferasi (GAMT) mediante ESI-MS/MS. 56
LHON mutations in Italian patients affected by multiple sclerosis. 55
Screening of mtDNA mutations in Italian LHON pedigrees. 54
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
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome 53
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT 52
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylanine hydroxylase deficiency. 51
Very early pattern of movement disorders in sepiapterin reductase deficiency. 51
LHON mutations in Italian patients affected by multiple sclerosis 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
A study of illegitimate transcripts of phenylalanine hydroxylase gene. 49
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree 49
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
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance 48
Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance. 47
A New Case Of Guanidinoacetatemethyltransferasi (Gamt) Deficency. Clinical, Molecular And Brain H-P-Magnetic Resonance Spectroscopy (Mrs) Features 47
DNA Elution and Amplification by Polymerase Chain Reaction from Dried Blood Spots. 47
Renal transplant in methylmalonic acidemia: could it be the best option? : Report on a case at 10 years and review of the literature. 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
Biomarcatori genomici 45
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 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
Proton MR spectroscopy in Pelizaeus-Merzbacher disease without point mutation in PLP gene 44
The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (PTPSD). A late diagnosed case 44
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
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 43
Proton MR spectroscopy in Pelizaeus-Merzbacher disease without point mutation in PLP gene. 42
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
EARLY ONSET PARKINSONISM: A NEW CLINICAL AND BIOCHEMICAL PHENOTYPE 42
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC 42
null 42
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
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
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
La malattia di Pelizaeus-Merzbacher: dalla clinica alla genetica molecolare. Giornale di Neuropsicofarmacologia 1997; 6: 135-138. 37
Two novel PAH gene mutations detected in Italian PKU patients. 37
Totale 6.441
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Categoria #
all - tutte 25.124
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 25.124
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020935 0 0 0 0 0 152 133 150 112 221 128 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
2024/2025710 78 126 88 118 133 167 0 0 0 0 0 0
Totale 8.301