Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
Hum Hered
; 77(1-4): 189-96, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060283
8.
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Mol Genet Metab
; 104(4): 603-7, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21996138
9.
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
10.
Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.
JIMD Rep
; 26: 99-102, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26314583
11.
Valores de referencia de β-glucosidasa y quitotriosidasa en gotas de sangre seca de lactantes venezolanos / Reference Values for β-glucosidase and chitotriosidase using dried blood spots in Venezuelan infants
Arch. venez. pueric. pediatr
; 79(4): 127-131, dic. 2016. tab
Artigo
em Espanhol
| LILACS | ID: biblio-838652
12.
Reflexões de uma experiência de oficina terapêutica infantil no CAPSIA: os Sonhadores / A workshop experience therapy with child at CAPSIA: the Dreamers
Aletheia
; (47/48): 196-207, maio-dez. 2015.
Artigo
em Português
| LILACS, Index Psi (psicologia) | ID: biblio-949846
13.
Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome
J. inborn errors metab. screen
; 3: e140010, 2015. graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090871
14.
A Community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
Artigo
em Inglês
| ARCA | ID: arc-8210