0000000000300064

AUTHOR

Andrea Frustaci

showing 3 related works from this author

Epidemiological study of Italian patients with Fabry disease.

2007

medicine.medical_specialtyPediatricsPathologyFabry diseaseSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAbusiness.industryPediatrics Perinatology and Child HealthEpidemiologymedicineGeneral Medicinebusinessmedicine.diseaseFabry disease
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Enzyme replacement therapy in Fabry disease: Comparison of agalsidase alfa and agalsidase beta

2008

medicine.medical_specialtybusiness.industryEndocrinology Diabetes and MetabolismUrologyEnzyme replacement therapymedicine.diseaseBiochemistryFabry diseaseAGALSIDASE BETAEndocrinologyGeneticsmedicinebusinessMolecular BiologyAgalsidase alfaMolecular Genetics and Metabolism
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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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