Detalhe da pesquisa
1.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
2.
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Genet Mol Biol
; 47(1): e20220335, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593426
3.
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
4.
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Neurol Sci
; 43(7): 4473-4481, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175440
5.
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
Mol Genet Metab
; 126(1): 6-13, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30594472
6.
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Blood Cells Mol Dis
; 68: 17-20, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27825739
7.
GBA1 variants in Brazilian Gaucher disease patients.
Mol Genet Metab Rep
; 37: 101006, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053927
8.
Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1.
Autops Case Rep
; 11: e2021306, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34458174
9.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Eur J Med Genet
; 63(7): 103941, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32407885
10.
Liver involvement in patients with Gaucher disease types I and III.
Mol Genet Metab Rep
; 22: 100564, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099816
11.
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
12.
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
Mol Genet Metab Rep
; 21: 100544, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799121
13.
Maple syrup urine disease: mechanisms and management.
Appl Clin Genet
; 10: 57-66, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28919799
14.
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
PLoS One
; 12(8): e0184065, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859139
15.
Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience
J. inborn errors metab. screen
; 10: e20210031, 2022. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1375768
16.
Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1
Autops. Case Rep
; 11: e2021306, 2021. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-1285400
17.
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.
Blood Cancer J
; 11(10): 170, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686653
18.
Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.
J Community Genet
; 6(3): 275-83, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040235
19.
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, Coleciona SUS, SES-SP | ID: biblio-1143202
20.
Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia.
Leuk Lymphoma
; 60(5): 1337-1339, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407884