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.
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
4.
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
5.
Diagnosing mucopolysaccharidosis IVA.
J Inherit Metab Dis;
36(2): 293-307, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23371450
6.
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
7.
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.
Mol Genet Metab;
103(2): 197-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21427013
8.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
J Inherit Metab Dis;
33 Suppl 3: S257-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20596894
9.
Diagnosis of Mucopolysaccharidoses.
Diagnostics (Basel);
10(3)2020 Mar 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32235807
10.
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
J Pediatr (Rio J);
96(6): 710-716, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31677975
11.
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
12.
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
13.
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
Arq Neuropsiquiatr;
74(12): 953-966, 2016 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27991992
14.
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center / Isoeletrofocalização da transferrina para investigação das doenças congênitasda glicosilação: análise de dez anos de experiência de um centro brasileiro
J. pediatr. (Rio J.);
96(6): 710-716, Set.-Dec. 2020. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-1143202
15.
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
J. inborn errors metab. screen;
8: e20190011, 2020. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090989
16.
Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.
Gene;
517(1): 112-5, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23313879
17.
Long-term restoration of alpha-L-iduronidase activity in fibroblasts from patients with mucopolysaccharidosis type I after non-viral gene transfer
Clin. biomed. res;
37(4): 330-333, 2017. ilus, graf
Artigo
em Inglês
| LILACS
| ID: biblio-876699
18.
Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
J. inborn errors metab. screen;
5: e160048, 2017. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090934
19.
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome / Desfechos neurológicos após transplante de células tronco hematopoiéticas na adrenoleucodistrofia ligada ao X, forma cerebral, na leucodistrofia metacromática de início tardio e na síndrome de Hurler
Arq. neuropsiquiatr;
74(12): 953-966, Dec. 2016. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-828003
20.
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI
Artigo
em Inglês
| Arca: Repositório institucional da Fiocruz
| ID: arc-9195