Detalhe da pesquisa
1.
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.
Clin Chem
; 70(6): 865-877, 2024 Jun 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38597162
2.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37870986
3.
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.
Mol Genet Metab
; 140(3): 107685, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37604083
4.
Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans.
Mol Genet Metab
; 140(3): 107698, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37820575
5.
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Mol Genet Metab
; 140(1-2): 107632, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37407323
6.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Mol Genet Metab
; 140(1-2): 107654, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37507255
7.
Corrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4].
Mol Genet Metab Rep
; 34: 100945, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36873249
8.
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
EMBO Mol Med
; 15(3): e14837, 2023 03 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36789546
9.
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.
Int J Neonatal Screen
; 8(1)2022 Jan 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35225932
10.
Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency.
Front Cell Dev Biol
; 10: 843079, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35721514
11.
Corrigendum to "Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases" [27/100744/2021/ pages: 1-4].
Mol Genet Metab Rep
; 33: 100943, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38234304
12.
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Int J Neonatal Screen
; 8(3)2022 Jun 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35892469
13.
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Mol Genet Metab Rep
; 32: 100888, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35769135
14.
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
Inglês
| MEDLINE | ID: mdl-35281662
15.
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Orphanet J Rare Dis
; 17(1): 407, 2022 11 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36348386
16.
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases.
Mol Genet Metab Rep
; 27: 100744, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33763332
17.
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.
Int J Neonatal Screen
; 6(3): 69, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-33123640
18.
Phenotypic Drug Discovery for Human African Trypanosomiasis: A Powerful Approach.
Trop Med Infect Dis
; 5(1)2020 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32033395
19.
Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32373753
20.
Triazolopyrimidines and Imidazopyridines: Structure-Activity Relationships and in Vivo Efficacy for Trypanosomiasis.
ACS Med Chem Lett
; 10(1): 105-110, 2019 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30655955