IRIS
PARENTI, GIANCARLO
 Distribuzione geografica
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Continente #
NA - Nord America 3.215
EU - Europa 1.734
AS - Asia 440
AF - Africa 76
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 2
SA - Sud America 2
Totale 5.475
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Nazione #
US - Stati Uniti d'America 3.110
IT - Italia 570
CN - Cina 344
UA - Ucraina 296
IE - Irlanda 223
FI - Finlandia 174
NL - Olanda 155
DE - Germania 141
CA - Canada 102
CI - Costa d'Avorio 73
GB - Regno Unito 62
SE - Svezia 51
FR - Francia 43
SG - Singapore 23
VN - Vietnam 22
IN - India 21
IR - Iran 10
JP - Giappone 9
AU - Australia 6
BE - Belgio 6
HK - Hong Kong 4
PL - Polonia 3
RU - Federazione Russa 3
TR - Turchia 3
AT - Austria 2
EU - Europa 2
MX - Messico 2
TW - Taiwan 2
BG - Bulgaria 1
CH - Svizzera 1
CL - Cile 1
CZ - Repubblica Ceca 1
HU - Ungheria 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
TN - Tunisia 1
Totale 5.475
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Città #
Chandler 535
Jacksonville 323
Millbury 240
Woodbridge 193
Princeton 182
Ashburn 140
Amsterdam 132
Nanjing 127
Naples 113
Houston 108
Ann Arbor 106
Wilmington 101
Boston 99
Ottawa 96
Napoli 72
Des Moines 47
Beijing 41
Nanchang 39
Hebei 36
Shenyang 29
Lawrence 25
Dong Ket 22
Singapore 21
Norwalk 20
Falls Church 19
Boardman 18
Orange 16
Jiaxing 15
Kronberg 14
Washington 14
Indiana 13
Kunming 13
Dearborn 12
Pune 12
Tianjin 12
Augusta 11
Dublin 11
Rome 11
Changsha 9
San Mateo 9
New York 8
Seattle 8
Florence 7
Los Angeles 7
Heidelberg 6
Marano 6
Milan 6
Redwood City 6
San Giorgio Del Sannio 6
Waanrode 6
Groningen 5
Caserta 4
Hangzhou 4
Hong Kong 4
Ichibancho 4
Leawood 4
Melfi 4
Osimo 4
Perth 4
Serramazzoni 4
Torino 4
Torre Annunziata 4
Ardabil 3
Council Bluffs 3
Midoricho 3
Padova 3
Paris 3
Pinneberg 3
Portici 3
San Francisco 3
Shanghai 3
Turin 3
Volla 3
Yellow Springs 3
Abbey Wood 2
Atlanta 2
Avellino 2
Bacoli 2
Bologna 2
Bytom 2
Cambridge 2
Castellammare Di Stabia 2
Changchun 2
Cleveland 2
Columbus 2
Deiva Marina 2
Ercolano 2
Fisciano 2
Fremont 2
Graz 2
Huizhou 2
Kish 2
Lanzhou 2
Lappeenranta 2
Lucca 2
Manduria 2
Marano Di Napoli 2
Marigliano 2
Richmond 2
Salerno 2
Totale 3.259
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 103
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy 70
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 67
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis 63
microRNAs as biomarkers in Pompe disease 59
Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases 57
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 55
Networking between γc and GH-R signaling in the control of cell growth 52
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 51
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 38: 34- 36, 2001 49
Brain damage in glycogen storage disease type I 49
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 48
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 48
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study 48
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 47
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. 46
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation 46
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 46
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases 45
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 45
Hypermethioninemia in Campania: Results from 10 years of newborn screening 45
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. 44
Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. 44
Pharmacological chaperone therapy for lysosomal storage diseases 43
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 43
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 43
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease 42
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome 42
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene 41
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with CDPX 41
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy 40
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome 40
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency 40
Lysosomal storage diseases: from pathophysiology to therapy. 39
N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease 39
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 39
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 39
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 39
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II 38
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. 37
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 37
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine 37
A real benefit of an extended neonatal screening 37
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 36
The presence of a reduced amount of 32 kDa "protective" protein is a distinct biochemical finding in late infantile galactosialidosis 36
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat 36
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. 35
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 35
Structure of human lysosomal acid a-glucosidase-A guide for the treatment of Pompe disease 35
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1 34
The sulfatase gene family 34
Molecular heterogeneity of STS deficiency. A multicenter study on 57 unrelated patients at DNA and protein levels 34
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 34
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 34
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa 34
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis 33
Immunocytochemical localization of lysosomal acid phosphatase in normal and I-cell fibroblasts 33
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 33
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts 33
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion 33
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 33
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency 32
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 32
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 32
Betamethasone therapy in Ataxia-Telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis 32
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 32
Structure and mutation analysis of glycogen storage disease type 1b gene 31
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms" Biochem Biophys Res Commun 31
Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship 31
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases 31
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 31
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease 31
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. 30
Steroid sulphatase deficiency and hypogonadism 30
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene 30
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 30
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 30
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 30
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 30
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study 30
Imbalanced cortisol concentrations in glycogen storage disease type I: Evidence for a possible link between endocrine regulation and metabolic derangement 30
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis 29
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 29
Evidence of polyglandular involvement in Niemann-Pick disease type B 29
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 29
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 29
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 29
Pompe Disease: from New Views on Pathophysiology to Innovative Therapeutic Strategies 29
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 29
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use 29
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis 28
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 28
CFC syndrome: report of familial cases 28
A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs 28
The rapidly evolving view of lysosomal storage diseases 28
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient 27
A Gene Network Regulating Lysosomal Biogenesis and Function 27
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 27
Bone metabolism impairment in glycogen storage disease type 1: a case control study 27
Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease 27
Totale 3.790
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Categoria #
all - tutte 22.701
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 22.701
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201923 0 0 0 0 0 0 0 0 0 12 5 6
2019/2020706 246 5 71 8 82 18 22 3 10 31 68 142
2020/2021729 10 60 81 72 71 114 71 13 85 4 106 42
2021/20221.064 19 2 2 8 8 45 10 42 231 60 166 471
2022/20231.316 221 114 33 90 158 132 7 126 173 160 82 20
2023/2024766 46 139 129 77 72 85 31 126 14 47 0 0
Totale 5.723