Detalhe da pesquisa
1.
Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach.
Metab Brain Dis
; 39(4): 577-587, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38305999
2.
Homocysteine and methylmalonic acid in Phenylketonuria patients.
Genet Mol Biol
; 46(3 Suppl 1): e20230103, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38591937
3.
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
Inglês
| MEDLINE | ID: mdl-38593426
4.
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.
Genet Mol Biol
; 46(3 Suppl 1): e20230117, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38047750
5.
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.
Genet Mol Biol
; 45(1): e20200432, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35167647
6.
SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey.
Am J Med Genet C Semin Med Genet
; 187(3): 301-311, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33474836
7.
Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment.
Blood Cells Mol Dis
; 90: 102591, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34242856
8.
Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients.
Am J Med Genet A
; 185(7): 1991-2002, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33765361
9.
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Genet Mol Biol
; 44(2): e20200281, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33999094
10.
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Am J Med Genet C Semin Med Genet
; 184(4): 1052-1059, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33277783
11.
Assessment of cellular cobalamin metabolism in Gaucher disease.
BMC Med Genet
; 21(1): 12, 2020 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-31931749
12.
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
Inglês
| MEDLINE | ID: mdl-31188934
13.
The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?
Genet Mol Biol
; 41(3): 515-532, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30235399
14.
KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword.
Cell Mol Life Sci
; 77(17): 3465-3466, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32591859
15.
Introduction to the special issue on Clinical Genetics in Latin America.
Am J Med Genet C Semin Med Genet
; 184(4): 873-875, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33354820
16.
Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines.
Blood Cells Mol Dis
; 74: 34-36, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30446378
17.
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Genet Mol Biol
; 37(1): 23-9, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24688287
18.
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.
Mol Genet Metab Rep
; 38: 101026, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38077955
19.
GBA1 variants in Brazilian Gaucher disease patients.
Mol Genet Metab Rep
; 37: 101006, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38053927
20.
Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.
Arq Neuropsiquiatr
; 81(7): 685-695, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37336507