List of works - Gabriela Pasqualim

Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.

scientific article published in March 2012

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts

scientific article published on 03 August 2018

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

scientific article

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder

scientific article published on 5 July 2016

Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I

scientific article (publication date: 2015)

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

scientific article published on 23 May 2019

Emerging drugs for the treatment of mucopolysaccharidoses.

scientific article

Fabry disease: a new approach for the screening of females in high-risk groups.

scientific article published on 25 February 2014

Fc Gamma Receptor IIA (CD32A) R131 Polymorphism as a Marker of Genetic Susceptibility to Sepsis

scientific article published on 21 October 2015

Identification of mutations in Colombian patients affected with Fabry disease.

scientific article published on 18 August 2015

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

scientific article published on 28 August 2018

Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice

scientific article published on 27 June 2018

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

scientific article

Lysosome

scientific article

Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy

scientific article published on 26 September 2018

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

scientific article published on 11 April 2019

Porcine cytomegalovirus infection is not associated to the occurrence of post-weaning multisystemic wasting syndrome

scientific article published on 7 July 2015

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

scientific article published on 11 April 2019

Simple and efficient screening of patients with Fabry disease with high resolution melting

scientific article published on 3 January 2018

Worldwide distribution of common IDUA pathogenic variants

scientific article

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients

scientific article published on 25 September 2014

List of works by Gabriela Pasqualim

Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder

Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

Emerging drugs for the treatment of mucopolysaccharidoses.

Fabry disease: a new approach for the screening of females in high-risk groups.

Fc Gamma Receptor IIA (CD32A) R131 Polymorphism as a Marker of Genetic Susceptibility to Sepsis

Identification of mutations in Colombian patients affected with Fabry disease.

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Lysosome

Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Porcine cytomegalovirus infection is not associated to the occurrence of post-weaning multisystemic wasting syndrome

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Simple and efficient screening of patients with Fabry disease with high resolution melting

Worldwide distribution of common IDUA pathogenic variants

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients