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.
SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey.
Am J Med Genet C Semin Med Genet
; 187(3): 301-311, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33474836
3.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Genet Med
; 23(12): 2369-2377, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341521
4.
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Genet Mol Biol
; 43(3): 20190298, 2020 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706845
5.
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
6.
A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
J. inborn errors metab. screen
; 9: e20200029, 2021. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1287008
7.
SARS-CoV-2 pandemic in the Brazilian community of rare diseases: a patient reported survey
Artigo
em Inglês
| ARCA | ID: arc-46159