about
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case reportIdentification of biomarkers in cerebrospinal fluid and serum of multiple sclerosis patients by immunoproteomics approach.De novo mutation in a male patient with Fabry disease: a case report.Effects of carboxyamidotriazole on in vitro models of imatinib-resistant chronic myeloid leukemia.High variability of Fabry disease manifestations in an extended Italian family.Role of S128R polymorphism of E-selectin in colon metastasis formation.Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.Response to Simsek et al.Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.Two distinct amplification events of the c-myc locus in a colorectal tumour.Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.Heterogeneity within and between primary colorectal carcinomas and matched metastases as revealed by analysis of Ki-ras and p53 mutations.Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?Effects of Parietaria judaica pollen extract on human microvascular endothelial cellsMolecular and clinical studies in five index cases with novel mutations in the GLA geneAntiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Paolo Colomba
@ast
Paolo Colomba
@en
Paolo Colomba
@es
Paolo Colomba
@nl
Paolo Colomba
@sl
type
label
Paolo Colomba
@ast
Paolo Colomba
@en
Paolo Colomba
@es
Paolo Colomba
@nl
Paolo Colomba
@sl
prefLabel
Paolo Colomba
@ast
Paolo Colomba
@en
Paolo Colomba
@es
Paolo Colomba
@nl
Paolo Colomba
@sl
P106
P1153
6505656343
P21
P31
P496
0000-0002-2470-7030