Detalhe da pesquisa
1.
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.
Mov Disord
; 36(5): 1216-1228, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547828
2.
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
J Med Genet
; 55(1): 39-47, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916646
3.
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Hum Mutat
; 38(11): 1511-1520, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28762252
4.
Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.
Neuropediatrics
; 48(2): 127-130, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192816
5.
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset
Neurology
; 102(1): e207898, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165373
6.
Human multipotent mesenchymal stromal cells use galectin-1 to inhibit immune effector cells.
Blood
; 116(19): 3770-9, 2010 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20644118
7.
Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Ann Clin Transl Neurol
; 9(11): 1807-1812, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271674
8.
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomics.
JIMD Rep
; 63(2): 168-180, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281658
9.
Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy.
Stem Cells Dev
; 31(7-8): 163-175, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323019
10.
A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
CRISPR J
; 5(1): 66-79, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34882002
11.
Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy.
Neurology
; 96(2): e255-e266, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046606
12.
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
JIMD Rep
; 58(1): 80-88, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728250
13.
Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses.
Cells
; 9(12)2020 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260765
14.
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy.
Mol Cell Pediatr
; 7(1): 12, 2020 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910272
15.
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1124: 109-113, 2019 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31195190
16.
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.
Stem Cell Res
; 35: 101336, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30606667
17.
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Orphanet J Rare Dis
; 14(1): 136, 2019 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186049
18.
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.
Eur J Paediatr Neurol
; 21(3): 522-529, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28109651
19.
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.
JAMA Neurol
; 73(9): 1133-40, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27400410
20.
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.
Neurology
; 79(16): 1662-70, 2012 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22993277