Detalhe da pesquisa
1.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Am J Hum Genet
; 110(9): 1600-1605, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607539
2.
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
3.
Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.
Mol Genet Metab
; 129(2): 111-116, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494022
4.
Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
J Inherit Metab Dis
; 43(3): 558-563, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707742
5.
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses.
Genet Med
; 21(3): 753-757, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061628
6.
Evaluation of biomarkers for Sanfilippo syndrome.
Mol Genet Metab
; 128(1-2): 68-74, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104888
7.
Reduced cerebral vascularization in experimental neuronopathic Gaucher disease.
J Pathol
; 244(1): 120-128, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981147
8.
Mass spectrometry-directed structure elucidation and total synthesis of ultra-long chain (O-acyl)-ω-hydroxy fatty acids.
J Lipid Res
; 59(8): 1510-1518, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907595
9.
Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse.
Mol Genet Metab
; 123(2): 112-117, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29273385
10.
Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet.
J Neurochem
; 141(2): 287-295, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28171706
11.
Determination of ester position in isomeric (O-acyl)-hydroxy fatty acids by ion trap mass spectrometry.
Rapid Commun Mass Spectrom
; 30(21): 2351-2359, 2016 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27520617
12.
Ceramide accumulation in L6 skeletal muscle cells due to increased activity of ceramide synthase isoforms has opposing effects on insulin action to those caused by palmitate treatment.
Diabetologia
; 56(12): 2697-701, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23989724
13.
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Commun Biol
; 6(1): 560, 2023 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231125
14.
Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation.
NPJ Parkinsons Dis
; 8(1): 99, 2022 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35933559
15.
The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases.
Brain Commun
; 4(1): fcab303, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169703
16.
Identification of phospholipids in human meibum by nano-electrospray ionisation tandem mass spectrometry.
Exp Eye Res
; 92(3): 238-40, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21195712
17.
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Metabolites
; 11(7)2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34357340
18.
Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease.
Hum Gene Ther
; 32(7-8): 420-430, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33339477
19.
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.
Mol Genet Metab Rep
; 29: 100811, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34712574
20.
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.
JIMD Rep
; 55(1): 68-74, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905071