Detalhe da pesquisa
1.
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
2.
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Mol Genet Metab
; 139(1): 107563, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086570
3.
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Ann Neurol
; 87(1): 139-153, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658403
4.
Diagnostic strategy for females suspected of Fabry disease.
Clin Genet
; 97(4): 655-660, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31860127
5.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Mov Disord
; 34(4): 526-535, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788890
6.
Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation.
Stroke
; 49(8): 1977-1980, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986930
7.
Tandem mass spectrometry assay of ß-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Mol Genet Metab
; 123(2): 135-139, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100779
8.
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Brain
; 138(Pt 9): 2648-58, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26117366
9.
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.
Int J Neonatal Screen
; 6(4)2020 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33371305
10.
Cerebrospinal fluid proteomics implicates the granin family in Parkinson's disease.
Sci Rep
; 10(1): 2479, 2020 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32051502
11.
SCARB2 variants and glucocerebrosidase activity in Parkinson's disease.
NPJ Parkinsons Dis
; 22016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27110593
12.
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.
Mol Genet Metab Rep
; 3: 55-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937397