Detalhe da pesquisa
1.
Effect of genistein and coenzyme Q10 in oxidative damage and mitochondrial membrane potential in an attenuated type II mucopolysaccharidosis cellular model.
Cell Biochem Funct
; 42(2): e3932, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332678
2.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Mol Genet Metab
; 140(1-2): 107654, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507255
3.
Evaluation of oxidative stress and mitochondrial function in a type II mucopolysaccharidosis cellular model: in vitro effects of genistein and coenzyme Q10.
Metab Brain Dis
; 38(2): 519-529, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029429
4.
Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system.
J Gene Med
; 24(4): e3410, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032067
5.
Production of antimicrobial metabolites against pathogenic bacteria and yeasts by Fusarium oxysporum in submerged culture processes.
Bioprocess Biosyst Eng
; 44(6): 1321-1332, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33646354
6.
Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice.
Gene Ther
; 27(1-2): 74-84, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827259
7.
Genome Editing for Mucopolysaccharidoses.
Int J Mol Sci
; 21(2)2020 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31941077
8.
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases.
Genet Mol Biol
; 42(1 suppl 1): 261-285, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132295
9.
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".
BMC Med Genet
; 19(1): 180, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30286738
10.
Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy.
Pharm Res
; 35(11): 221, 2018 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30259180
11.
Ex vivo gene therapy for lysosomal storage disorders: future perspectives.
Expert Opin Biol Ther
; 23(4): 353-364, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920351
12.
Corrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4].
Mol Genet Metab Rep
; 34: 100945, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873249
13.
Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I.
J Inherit Metab Dis
; 40(3): 311-312, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28160112
14.
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
Ther Clin Risk Manag
; 18: 1143-1155, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36578769
15.
Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation.
Mol Ther Methods Clin Dev
; 25: 392-409, 2022 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35573043
16.
Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses.
Adv Drug Deliv Rev
; 191: 114616, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36356930
17.
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Int J Neonatal Screen
; 8(3)2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35892469
18.
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Mol Genet Metab Rep
; 32: 100888, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769135
19.
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Orphanet J Rare Dis
; 17(1): 407, 2022 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348386
20.
Creating cell lines for mimicking diseases.
Prog Mol Biol Transl Sci
; 181: 59-87, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34127202