Detalhe da pesquisa
1.
α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.
Mol Ther
; 32(3): 609-618, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38204164
2.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Am J Med Genet A
; 194(6): e63544, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258498
3.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
J Med Genet
; 60(7): 722-731, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543533
4.
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Int J Mol Sci
; 25(5)2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474117
5.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Genet Mol Biol
; 47(1): e20230285, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488524
6.
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Mol Genet Metab
; 140(1-2): 107632, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407323
7.
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
8.
Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy.
Arch Biochem Biophys
; 737: 109541, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36754222
9.
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
Arch Biochem Biophys
; 735: 109510, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608914
10.
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.
Am J Med Genet A
; 191(2): 408-423, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541412
11.
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Int J Equity Health
; 22(1): 11, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639662
12.
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Genet Mol Biol
; 46(3 Suppl 1): e20230126, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091267
13.
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
14.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med
; 24(7): 1425-1436, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471153
15.
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Mol Genet Metab
; 135(2): 133-142, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991944
16.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
J Pediatr
; 249: 50-58.e2, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35709957
17.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Am J Med Genet A
; 188(3): 760-767, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806811
18.
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil.
Mol Ther
; 29(7): 2378-2386, 2021 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781915
19.
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Hum Mutat
; 42(11): 1384-1398, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387910
20.
Clinical trials for genetic diseases in Latin America.
Am J Med Genet C Semin Med Genet
; 187(3): 381-387, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480410