Detalhe da pesquisa
1.
Homocysteine and methylmalonic acid in Phenylketonuria patients.
Genet Mol Biol
; 46(3 Suppl 1): e20230103, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38591937
2.
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
em Inglês
| MEDLINE | ID: mdl-38047750
3.
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.
Genet Mol Biol
; 45(1): e20200432, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35167647
4.
Epidemiological aspects of hereditary fructose intolerance: A database study.
Hum Mutat
; 42(12): 1548-1566, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524712
5.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Genet Med
; 23(12): 2369-2377, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341521
6.
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Genet Mol Biol
; 44(2): e20200281, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999094
7.
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Genet Mol Biol
; 43(3): 20190298, 2020 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706845
8.
Effect of BTD gene variants on in vitro biotinidase activity.
Mol Genet Metab
; 127(4): 361-367, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337602
9.
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Genet Mol Biol
; 42(3): 571-573, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31188938
10.
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
J Inherit Metab Dis
; 2018 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740775
11.
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Hum Mol Genet
; 24(12): 3497-505, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25788519
12.
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
J Hum Genet
; 61(6): 555-60, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26935170
13.
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
em Inglês
| MEDLINE | ID: mdl-32591859
14.
Osteopontin: a potential biomarker of Gaucher disease.
Ann Hematol
; 94(7): 1119-25, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875742
15.
New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals.
An Acad Bras Cienc
; 87(2 Suppl): 1375-88, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26247150
16.
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
BMC Med Genet
; 15: 96, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174816
17.
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.
Genes (Basel)
; 14(12)2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137041
18.
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.
Orphanet J Rare Dis
; 16(1): 254, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082801
19.
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Mol Genet Genomic Med
; 9(5): e1616, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955723
20.
Determination of amylose/amylopectin ratio of starches.
J Inherit Metab Dis
; 38(5): 985-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25921820