Detalhe da pesquisa
1.
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
N Engl J Med
; 387(23): 2150-2158, 2022 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351280
2.
Mast cell maturation is driven via a group III phospholipase A2-prostaglandin D2-DP1 receptor paracrine axis.
Nat Immunol
; 14(6): 554-63, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23624557
3.
Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.
PLoS Biol
; 20(7): e3001661, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789331
4.
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.
Clin Chem
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38597162
5.
Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots.
Mol Genet Metab
; 141(1): 108105, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128203
6.
Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.
Mol Genet Metab
; 142(2): 108489, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718669
7.
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Mol Genet Metab
; 142(1): 108436, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552449
8.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Mol Genet Metab
; 141(2): 108116, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161139
9.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870986
10.
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
em Inglês
| MEDLINE | ID: mdl-37604083
11.
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
em Inglês
| MEDLINE | ID: mdl-37820575
12.
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
em Inglês
| MEDLINE | ID: mdl-37407323
13.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Mol Genet Metab
; 140(1-2): 107654, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507255
14.
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Neurobiol Dis
; 174: 105862, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113749
15.
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Mol Genet Metab
; 136(4): 296-305, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787971
16.
Secreted Phospholipase A2 Group X Acts as an Adjuvant for Type 2 Inflammation, Leading to an Allergen-Specific Immune Response in the Lung.
J Immunol
; 204(12): 3097-3107, 2020 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341057
17.
Exercise-induced alterations in phospholipid hydrolysis, airway surfactant, and eicosanoids and their role in airway hyperresponsiveness in asthma.
Am J Physiol Lung Cell Mol Physiol
; 320(5): L705-L714, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33533300
18.
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Genet Med
; 23(3): 555-561, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214709
19.
Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.
J Inherit Metab Dis
; 44(1): 264-271, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506457
20.
Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts.
Anal Chem
; 92(17): 11721-11727, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32786498