0000000000956202

AUTHOR

Giuseppe Limongelli

showing 2 related works from this author

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

2018

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha

0301 basic medicineProbandMaleDiseasemedicine.disease_causeSphingolipidCatalysilcsh:Chemistry0302 clinical medicineGla geneFabry disease; GLA gene; LysoGb3MedicineChildlcsh:QH301-705.5Spectroscopychemistry.chemical_classificationGeneticsAlleleAged 80 and overMutationComputer Science Applications1707 Computer Vision and Pattern RecognitionGeneral MedicineMiddle AgedPhenotype3. Good healthComputer Science ApplicationsPhenotypeChild PreschoolFemaleHumanAdultAdolescentGenotypeGlycolipidCatalysisArticleInorganic Chemistry03 medical and health sciencesYoung Adultotorhinolaryngologic diseasesHumansPhysical and Theoretical ChemistryMolecular BiologyGeneGLA geneAllelesAgedFabry diseaseSphingolipidsbusiness.industryOrganic ChemistryInfant NewbornLysoGb3InfantBiomarkerFabry disease; gla gene; lysogb3; adolescent; adult; aged; aged 80 and over; alleles; amino acid substitution; biomarkers; child; child preschool; fabry disease; female; genotype; glycolipids; humans; infant; infant newborn; male; middle aged; phenotype; sphingolipids; young adult; alpha-galactosidase; mutationmedicine.diseaseFabry disease030104 developmental biologyEnzymechemistrylcsh:Biology (General)lcsh:QD1-999Amino Acid Substitutionalpha-GalactosidaseMutationGlycolipidsbusiness030217 neurology & neurosurgeryBiomarkersInternational Journal of Molecular Sciences
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Cardiac imaging in congenital heart disease during the coronavirus disease-2019 pandemic: Recommendations from the Working Group on Congenital Heart …

2020

: The recent outbreak of 2019 severe acute respiratory syndrome coronavirus-2 is having major repercussions on healthcare services provision in Italy and worldwide. Data suggest the virus has a strong impact on the cardiovascular system, and cardiac imaging will play an important role in patients affected by coronavirus disease-2019. Although paediatric patients are mildly affected, they represent a clear accelerator in spreading the virus, and healthcare workers are at higher risk of infection. The aim of this position paper is to provide clinical recommendation regarding the execution of imaging investigations for the cardiac diagnostic work-up of paediatric patients with suspected or con…

Heart diseaseClinical Practice Recommendations and Position Papersevere acute respiratory syndrome coronavirus-2030204 cardiovascular system & hematologymedicine.disease_causePediatricsCongenital0302 clinical medicinePandemicMedicineInfection controlViral030212 general & internal medicineChildSocieties MedicalHeart DefectsCoronavirusPediatricRisk of infectionInfectiousGeneral Medicinecongenital heart diseaseItalyCardiology and Cardiovascular MedicineCoronavirus InfectionsHumanHeart Defects Congenitalmedicine.medical_specialtyPneumonia ViralCardiologycardiac imaging03 medical and health sciencesBetacoronavirusDisease TransmissionMedicalOccupational ExposureDisease Transmission InfectiousHumanscardiac imaging; congenital heart disease; coronavirus disease-2019; severe acute respiratory syndrome coronavirus-2; Betacoronavirus; COVID-19; Cardiac Imaging Techniques; Child; Disease Transmission Infectious; Humans; Infection Control; Italy; Occupational Exposure; SARS-CoV-2; Societies Medical; Cardiology; Coronavirus Infections; Heart Defects Congenital; Pandemics; Pediatrics; Pneumonia ViralIntensive care medicinePandemicsCardiac Imaging TechniqueInfection ControlBetacoronaviruPandemicbusiness.industrySARS-CoV-2Coronavirus Infectioncoronavirus disease-2019OutbreakCOVID-19Pneumoniamedicine.diseasePneumoniaCardiac Imaging TechniquesDisease Transmission InfectiouCardiac Imaging TechniquesSocietiesbusiness
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