Detalhe da pesquisa
1.
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
2.
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
3.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Am J Med Genet C Semin Med Genet
; 187(3): 349-356, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960103
4.
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil.
Genet Mol Biol
; 45(1): e20210253, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927665
5.
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Genet Mol Biol
; 44(1): e20200138, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33503199
6.
Lysosomal diseases: Overview on current diagnosis and treatment.
Genet Mol Biol
; 42(1 suppl 1): 165-177, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067291
7.
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
Prenat Diagn
; 37(5): 435-439, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28207930
8.
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory.
Genet Mol Biol
; 40(1): 31-39, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28304074
9.
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Orphanet J Rare Dis
; 18(1): 309, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37784132
10.
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
11.
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
JIMD Rep
; 63(2): 162-167, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281662
12.
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
13.
Diagnosis of Mucopolysaccharidoses.
Diagnostics (Basel)
; 10(3)2020 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235807
14.
Mucopolysaccharidosis Type I.
Diagnostics (Basel)
; 10(3)2020 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32188113
15.
Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study.
Clin Chim Acta
; 492: 1-6, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30695688
16.
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
Mol Genet Metab Rep
; 21: 100544, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799121
17.
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
Int J Dev Neurosci
; 66: 18-23, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29197565
18.
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Mol Genet Metab Rep
; 12: 92-97, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28721335
19.
Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians.
Parkinsonism Relat Disord
; 15(1): 76-8, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18358758
20.
Fabry disease: a new approach for the screening of females in high-risk groups.
Clin Biochem
; 47(7-8): 657-62, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24582695