Detalhe da pesquisa
1.
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
2.
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
3.
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
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.
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Mol Genet Metab
; 129(2): 106-110, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31753749
6.
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.
Genet Mol Biol
; 43(2): e20180334, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32478793
7.
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
8.
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
9.
Population medical genetics: translating science to the community.
Genet Mol Biol
; 42(1 suppl 1): 312-320, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985854
10.
Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation.
Biochim Biophys Acta
; 1862(9): 1608-16, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27251652
11.
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
12.
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
13.
Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy.
Biochim Biophys Acta
; 1852(5): 1012-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701642
14.
Non-immune hydrops fetalis: A prospective study of 53 cases.
Am J Med Genet A
; 161A(12): 3078-86, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24039125
15.
Diagnosing mucopolysaccharidosis IVA.
J Inherit Metab Dis
; 36(2): 293-307, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23371450
16.
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice.
Cytotherapy
; 14(7): 860-7, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22472038
17.
Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells.
Cells Tissues Organs
; 195(4): 323-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-21778683
18.
A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.
Genet Mol Biol
; 35(2): 424-7, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22888290
19.
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
20.
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