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List of works by Olga Amaral

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

scientific article published on 01 August 2003

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

scientific article

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

scientific article published on 24 November 2019

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

scientific article published in November 2004

Characterization of a rare Unverricht-Lundborg disease mutation

scientific article published on 5 August 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.

scientific article

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

scientific article published on 21 April 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

scientific article

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

scientific article published on 01 July 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

scientific article published on 31 October 2018

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

scientific article published on 10 March 2016

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

scientific article published on 18 October 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?

scientific article published in April 2017

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

scientific article published on 02 September 2005

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

scientific article published on January 4, 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

scientific article published on 01 April 1999

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

scientific article published on 01 January 1994

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

scientific article published on 01 January 1996

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

scientific article published in February 1993

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene

scientific article published on 10 December 2011

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