Detalhe da pesquisa
1.
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.
Int J Mol Sci;
25(6)2024 Mar 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38542525
2.
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.
Int J Mol Sci;
19(11)2018 Oct 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30384423
3.
CHIT1 genetic defects in the Portuguese population.
Blood Cells Mol Dis;
50(1): 50-2, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22959626
4.
The Biology of Lysosomes: From Order to Disorder.
Biomedicines;
11(1)2023 Jan 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36672721
5.
Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses.
Endocr Metab Immune Disord Drug Targets;
2023 Nov 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37937567
6.
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Stem Cell Res;
45: 101794, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32388441
7.
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene.
Stem Cell Res;
41: 101595, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31678773
8.
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.
Genes (Basel);
9(9)2018 Sep 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30208654
9.
Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Arch Med Res;
48(3): 263-269, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28923328
10.
Characterization of a rare Unverricht-Lundborg disease mutation.
Mol Genet Metab Rep;
4: 68-71, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26937413
11.
Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples.
ISRN Mol Biol;
2013: 451298, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27335677
12.
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
Epilepsy Res;
99(1-2): 187-90, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22154554
13.
Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.
Genet Test Mol Biomarkers;
15(3): 123-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21204700