IRIS
PARENTI, GIANCARLO
 Distribuzione geografica
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Continente #
NA - Nord America 3.608
EU - Europa 1.808
AS - Asia 1.155
AF - Africa 75
OC - Oceania 8
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 6.660
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Nazione #
US - Stati Uniti d'America 3.502
SG - Singapore 705
IT - Italia 608
CN - Cina 372
UA - Ucraina 297
IE - Irlanda 224
FI - Finlandia 188
NL - Olanda 158
DE - Germania 153
CA - Canada 102
CI - Costa d'Avorio 72
GB - Regno Unito 66
SE - Svezia 50
FR - Francia 44
VN - Vietnam 22
IN - India 21
IR - Iran 10
JP - Giappone 10
AU - Australia 8
BE - Belgio 6
TR - Turchia 5
HK - Hong Kong 4
PL - Polonia 4
MX - Messico 3
RU - Federazione Russa 3
AR - Argentina 2
AT - Austria 2
CZ - Repubblica Ceca 2
EU - Europa 2
TW - Taiwan 2
BG - Bulgaria 1
CL - Cile 1
HU - Ungheria 1
ID - Indonesia 1
KE - Kenya 1
MA - Marocco 1
MK - Macedonia 1
MM - Myanmar 1
MO - Macao, regione amministrativa speciale della Cina 1
PA - Panama 1
PE - Perù 1
TH - Thailandia 1
TN - Tunisia 1
Totale 6.660
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Città #
Singapore 585
Chandler 529
Jacksonville 323
Millbury 240
Woodbridge 193
Princeton 182
Santa Clara 156
Ashburn 143
Amsterdam 129
Nanjing 128
Naples 115
Houston 107
Ann Arbor 106
Boston 101
Wilmington 101
Ottawa 96
Napoli 67
Des Moines 46
Beijing 41
Nanchang 39
Hebei 36
Shenyang 29
Lawrence 24
Dong Ket 22
Norwalk 20
Falls Church 19
Boardman 18
Orange 16
Jiaxing 15
Rome 15
Kronberg 14
Indiana 13
Kunming 13
Tianjin 13
Washington 13
Dearborn 12
Dublin 12
Pune 12
Augusta 11
Milan 11
Munich 10
Changsha 9
Florence 9
New York 9
San Mateo 9
Helsinki 8
Los Angeles 8
Seattle 8
Caserta 7
Dallas 6
Groningen 6
Heidelberg 6
Lappeenranta 6
Marano 6
Portici 6
Redwood City 6
San Giorgio Del Sannio 6
Waanrode 6
Bologna 4
Guangzhou 4
Hangzhou 4
Hong Kong 4
Ichibancho 4
Leawood 4
Melfi 4
Perth 4
Reggio Emilia 4
Salerno 4
Serramazzoni 4
Torino 4
Torre Annunziata 4
Ardabil 3
Brisbane 3
Council Bluffs 3
Midoricho 3
Padova 3
Paris 3
Pinneberg 3
San Francisco 3
Shanghai 3
Springfield 3
Turin 3
Volla 3
Yellow Springs 3
Abbey Wood 2
Agropoli 2
Atlanta 2
Avellino 2
Aversa 2
Bacoli 2
Brno 2
Bytom 2
Cambridge 2
Castellammare Di Stabia 2
Changchun 2
Cleveland 2
Columbus 2
Deiva Marina 2
Denver 2
Ercolano 2
Totale 4.019
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 118
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 78
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 65
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 64
Networking between γc and GH-R signaling in the control of cell growth 62
microRNAs as biomarkers in Pompe disease 62
Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases 62
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 57
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 57
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium 54
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 38: 34- 36, 2001 53
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation 53
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 52
Brain damage in glycogen storage disease type I 52
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 52
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 51
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 51
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 51
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 51
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. 49
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with CDPX 49
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 49
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. 49
Pharmacological chaperone therapy for lysosomal storage diseases 48
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 48
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 47
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases 47
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene 47
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine 47
N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease 47
Hypermethioninemia in Campania: Results from 10 years of newborn screening 47
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease 45
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome 45
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency 45
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 45
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 45
A real benefit of an extended neonatal screening 45
Lysosomal storage diseases: from pathophysiology to therapy. 44
Structure of human lysosomal acid a-glucosidase-A guide for the treatment of Pompe disease 44
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 44
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 44
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II 43
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy 42
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 42
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 42
The presence of a reduced amount of 32 kDa "protective" protein is a distinct biochemical finding in late infantile galactosialidosis 42
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 41
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 41
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 41
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. 40
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 40
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1 39
The sulfatase gene family 39
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 39
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts 39
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 39
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. 38
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 38
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 38
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 38
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 38
Molecular heterogeneity of STS deficiency. A multicenter study on 57 unrelated patients at DNA and protein levels 38
Betamethasone therapy in Ataxia-Telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis 38
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use 38
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency 37
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms" Biochem Biophys Res Commun 37
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 37
Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship 37
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion 37
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 37
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis 36
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. 36
Immunocytochemical localization of lysosomal acid phosphatase in normal and I-cell fibroblasts 36
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 36
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases 36
Pompe Disease: from New Views on Pathophysiology to Innovative Therapeutic Strategies 36
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation 36
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease 36
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 35
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 35
Structure and mutation analysis of glycogen storage disease type 1b gene 34
Evidence of polyglandular involvement in Niemann-Pick disease type B 34
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 34
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 34
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 33
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods 33
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 33
Bone metabolism impairment in glycogen storage disease type 1: a case control study 33
Steroid sulphatase deficiency and hypogonadism 32
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis 32
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis 32
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 32
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 32
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase 32
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study 32
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 32
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 32
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 32
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 31
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient 31
Totale 4.308
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Categoria #
all - tutte 33.203
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 33.203
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020376 0 0 0 0 82 18 22 3 10 31 68 142
2020/2021723 10 60 81 72 71 114 71 13 85 4 106 36
2021/20221.053 14 2 1 8 8 42 10 42 231 59 166 470
2022/20231.298 220 111 33 90 158 131 5 123 173 157 77 20
2023/20241.009 46 137 127 74 70 81 26 120 14 49 183 82
2024/2025981 333 395 49 78 126 0 0 0 0 0 0 0
Totale 6.912