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.
Application of qPCR for multicopper oxidase gene (MCO) in biogenic amines degradation by Lactobacillus casei.
Food Microbiol
; 91: 103550, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32539976
3.
Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy.
Int J Mol Sci
; 20(23)2019 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771289
4.
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
5.
CHIT1 genetic defects in the Portuguese population.
Blood Cells Mol Dis
; 50(1): 50-2, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22959626
6.
The Biology of Lysosomes: From Order to Disorder.
Biomedicines
; 11(1)2023 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672721
7.
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
8.
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
9.
Grape Pomace: A Potential Ingredient for the Human Diet.
Foods
; 9(12)2020 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260373
10.
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
11.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Eur J Hum Genet
; 27(6): 919-927, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737479
12.
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
13.
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
14.
Editorial: Somatic Cell Gene Editing for Treating Diseases.
Front Cell Dev Biol
; 9: 828195, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35004705
15.
Lessons from Ciência Viva: how teaching human genetics to XXIst century students must go beyond the classroom.
Eur J Hum Genet
; 28(5): 533-534, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31740734
16.
Characterization of a rare Unverricht-Lundborg disease mutation.
Mol Genet Metab Rep
; 4: 68-71, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937413
17.
Prevalence of lysosomal storage diseases in Portugal.
Eur J Hum Genet
; 12(2): 87-92, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14685153
18.
Gaucher disease in Tunisia: High frequency of the most common mutations.
Blood Cells Mol Dis
; 43(2): 161-2, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19553144
19.
Field study on the accumulation of trace elements by vegetables produced in the vicinity of abandoned pyrite mines.
Sci Total Environ
; 470-471: 1233-42, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24252198
20.
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