IRIS
PARENTI, GIANCARLO
 Distribuzione geografica
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Continente #
AS - Asia 6.512
NA - Nord America 5.853
EU - Europa 5.485
SA - Sud America 1.078
AF - Africa 171
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 5
Totale 19.115
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Nazione #
US - Stati Uniti d'America 5.570
SG - Singapore 3.744
RU - Federazione Russa 2.626
CN - Cina 1.272
BR - Brasile 891
IT - Italia 877
HK - Hong Kong 626
VN - Vietnam 418
DE - Germania 392
UA - Ucraina 333
FI - Finlandia 280
IE - Irlanda 225
NL - Olanda 211
GB - Regno Unito 180
CA - Canada 179
FR - Francia 101
IN - India 93
AR - Argentina 77
SE - Svezia 76
CI - Costa d'Avorio 72
MX - Messico 71
BD - Bangladesh 46
ZA - Sudafrica 42
JP - Giappone 41
PL - Polonia 41
TR - Turchia 37
KR - Corea 36
ES - Italia 35
ID - Indonesia 32
IQ - Iraq 32
EC - Ecuador 28
AT - Austria 22
LT - Lituania 22
UY - Uruguay 18
UZ - Uzbekistan 18
IR - Iran 16
VE - Venezuela 16
BE - Belgio 14
CL - Cile 14
PK - Pakistan 14
AE - Emirati Arabi Uniti 12
CO - Colombia 12
PY - Paraguay 11
IL - Israele 10
KE - Kenya 9
PE - Perù 9
AU - Australia 8
JM - Giamaica 8
SA - Arabia Saudita 8
CZ - Repubblica Ceca 7
JO - Giordania 7
MA - Marocco 7
AZ - Azerbaigian 6
BY - Bielorussia 5
DZ - Algeria 5
ET - Etiopia 5
KZ - Kazakistan 5
LB - Libano 5
TN - Tunisia 5
AL - Albania 4
BG - Bulgaria 4
BH - Bahrain 4
DO - Repubblica Dominicana 4
NO - Norvegia 4
PR - Porto Rico 4
TH - Thailandia 4
LV - Lettonia 3
MY - Malesia 3
NP - Nepal 3
OM - Oman 3
PT - Portogallo 3
SN - Senegal 3
TW - Taiwan 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
CR - Costa Rica 2
CV - Capo Verde 2
DK - Danimarca 2
EG - Egitto 2
EU - Europa 2
GA - Gabon 2
HN - Honduras 2
LC - Santa Lucia 2
MK - Macedonia 2
ML - Mali 2
MU - Mauritius 2
NE - Niger 2
NG - Nigeria 2
NI - Nicaragua 2
PA - Panama 2
PH - Filippine 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
XK - ???statistics.table.value.countryCode.XK??? 2
AD - Andorra 1
AF - Afghanistan, Repubblica islamica di 1
AO - Angola 1
BO - Bolivia 1
BS - Bahamas 1
BZ - Belize 1
Totale 19.079
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Città #
Singapore 1.672
Hong Kong 622
Moscow 591
Chandler 524
Ashburn 435
Beijing 351
Santa Clara 330
Jacksonville 324
Millbury 245
Hefei 213
Naples 209
Woodbridge 192
Princeton 185
Los Angeles 179
San Jose 154
Amsterdam 145
Ho Chi Minh City 141
Nanjing 136
Boston 129
Houston 123
Ann Arbor 109
Wilmington 106
Ottawa 101
Munich 98
The Dalles 93
Buffalo 82
Redondo Beach 82
Hanoi 76
New York 76
São Paulo 75
Napoli 66
Dallas 56
Helsinki 49
Montreal 46
Des Moines 45
Turku 42
Denver 38
Nuremberg 38
Seattle 38
Nanchang 37
Chicago 36
Hebei 36
Seoul 36
Brooklyn 35
Frankfurt am Main 33
Warsaw 32
London 31
Orem 31
Tokyo 30
Chennai 29
Phoenix 29
Shenyang 29
Johannesburg 28
Rio de Janeiro 28
Falkenstein 27
Da Nang 25
Mexico City 25
Rome 25
Poplar 24
Stockholm 24
Atlanta 23
Lawrence 23
Boardman 22
Dong Ket 22
Milan 22
Tianjin 22
Belo Horizonte 21
Brasília 21
Falls Church 20
Norwalk 20
Curitiba 18
Washington 18
Biên Hòa 17
San Francisco 17
Tashkent 17
Augusta 16
Haiphong 16
Manchester 16
Orange 16
Jiaxing 15
Porto Alegre 15
Ankara 14
Changsha 14
Düsseldorf 14
Kronberg 14
Shanghai 14
Baghdad 13
Dublin 13
Guangzhou 13
Indiana 13
Kunming 13
Montevideo 13
Pune 13
Querétaro 13
Dearborn 12
Mumbai 12
Lappeenranta 11
Turin 11
Vienna 11
Charlotte 10
Totale 9.484
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 235
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 164
Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases 164
microRNAs as biomarkers in Pompe disease 158
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 150
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 145
Brain damage in glycogen storage disease type I 137
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 135
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs 133
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use 131
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation 130
How dietary advanced glycation end products could facilitate the occurrence of food allergy 129
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 129
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 129
Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function 129
Networking between γc and GH-R signaling in the control of cell growth 127
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine 127
Hypermethioninemia in Campania: Results from 10 years of newborn screening 127
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 126
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 124
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 123
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 123
N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease 123
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. 121
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 121
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 120
A real benefit of an extended neonatal screening 120
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 118
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 117
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. 117
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 115
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease 114
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 113
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome 113
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency 113
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 113
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 112
The presence of a reduced amount of 32 kDa "protective" protein is a distinct biochemical finding in late infantile galactosialidosis 111
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. 111
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 111
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 111
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 111
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe Disease. 109
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 109
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 109
Pharmacological chaperone therapy for lysosomal storage diseases 108
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation 108
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 107
Postbiotic Preparation of Lacticaseibacillus rhamnosus GG against Diarrhea and Oxidative Stress Induced by Spike Protein of SARS-CoV-2 in Human Enterocytes 106
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment 106
The sulfatase gene family 106
A Gene Network Regulating Lysosomal Biogenesis and Function 106
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 105
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 105
Update on early cardiovascular and metabolic risk factors in children and adolescents affected with growth hormone deficiency 104
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 104
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 102
Otorhinolaryngological management in the Mucopolysaccharidoses 102
Structure of human lysosomal acid a-glucosidase-A guide for the treatment of Pompe disease 102
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report 102
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. 99
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 99
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II 98
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 97
Molecular heterogeneity of STS deficiency. A multicenter study on 57 unrelated patients at DNA and protein levels 97
THERMODYNAMICS OF INTERACTION BETWEEN RECOMBINANT HUMAN LYSOSOMAL alfa-GLUCOSIDASE AND PHARMACOLOGICAL CHAPERONES 97
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome 96
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 96
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 96
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts 96
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 96
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 95
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 95
Evidence of polyglandular involvement in Niemann-Pick disease type B 94
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 94
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 94
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 93
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy 93
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome 93
Bone metabolism impairment in glycogen storage disease type 1: a case control study 93
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 92
Type A Niemann-Pick disease. Description of three cases with delayed myelination 92
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 91
Immunocytochemical localization of lysosomal acid phosphatase in normal and I-cell fibroblasts 91
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with CDPX 91
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 91
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? 90
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts 90
Betamethasone therapy in Ataxia-Telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis 90
Large neutral amino acids (Lnaas) supplementation improves neuropsychological performances in adult patients with phenylketonuria 90
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. 89
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 89
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 88
Structure and mutation analysis of glycogen storage disease type 1b gene 88
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 88
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms" Biochem Biophys Res Commun 88
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. 88
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 38: 34- 36, 2001 87
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods 87
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 87
Totale 10.978
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Categoria #
all - tutte 65.958
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 65.958
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021311 0 0 0 0 0 0 68 13 85 4 105 36
2021/20221.057 14 2 1 8 7 42 10 42 230 59 164 478
2022/20231.289 222 109 32 90 157 130 5 123 170 157 76 18
2023/20241.013 47 137 127 75 70 81 26 119 14 49 183 85
2024/20256.325 334 405 50 75 144 315 648 444 562 716 2.081 551
2025/20267.131 1.252 826 1.158 1.107 2.113 517 158 0 0 0 0 0
Totale 19.393