Detalhe da pesquisa
1.
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
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.
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
5.
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Genet Mol Biol
; 42(1 suppl 1): 155-164, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31188934
6.
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