Lista de obras -

ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis

artículo científico publicado en 2003

Adult-onset neuronopathic form of Gaucher's disease: a case report.

artículo científico publicado en 2003

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy

artículo científico publicado en 2019

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.

artículo científico publicado en 2004

Characterization of a rare Unverricht-Lundborg disease mutation

artículo científico publicado en 2015

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

article

Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.

artículo científico publicado en 1997

Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples.

artículo científico publicado en 2013

Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population

scientific article published on 01 June 1994

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

artículo científico publicado en 2000

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

artículo científico publicado en 1999

Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis

scientific article published on 01 October 1993

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

artículo científico publicado en 2018

Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways: Paving the path for better understanding of IEM.

artículo científico publicado en 2016

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

artículo científico publicado en 2019

Lessons from Ciência Viva: how teaching human genetics to XXIst century students must go beyond the classroom

scientific article published on 18 November 2019

Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?

artículo científico publicado en 2017

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries

artículo científico publicado en 2005

Rapid and Cost-Effective Method for the Detection of the c.533G>A Mutation in theHEXAGene ⬇️

artículo científico publicado el 4 de enero de 2011

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

scientific article published on 08 February 2019

T Cell Numbers Relate to Bone Involvement in Gaucher Disease