Detalhe da pesquisa
1.
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Mol Genet Metab
; 142(1): 108349, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458124
2.
Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC.
J Transl Med
; 21(1): 437, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407981
3.
Phenotypic characterisation of the Mucopolysaccharidosis Type I (MPSI) Idua-W392X mouse model reveals increased anxiety-related traits in female mice.
Mol Genet Metab
; 139(4): 107651, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473537
4.
Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?
Int J Mol Sci
; 23(9)2022 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563245
5.
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
J Inherit Metab Dis
; 44(5): 1248-1262, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34047372
6.
The role of innate immunity in mucopolysaccharide diseases.
J Neurochem
; 148(5): 639-651, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451296
7.
Non-myeloablative busulfan chimeric mouse models are less pro-inflammatory than head-shielded irradiation for studying immune cell interactions in brain tumours.
J Neuroinflammation
; 16(1): 25, 2019 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30722781
8.
Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy.
Brain
; 141(1): 99-116, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29186350
9.
A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.
Brain
; 141(7): 2014-2031, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29788236
10.
Identification of unusual oxysterols and bile acids with 7-oxo or 3ß,5α,6ß-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation.
J Lipid Res
; 59(6): 1058-1070, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29626102
11.
Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders.
Mol Genet Metab
; 125(4): 322-331, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30145178
12.
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres.
Mol Genet Metab
; 117(3): 373-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26832957
13.
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Brain
; 138(Pt 2): 336-55, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25567323
14.
Dual Purpose Vectors for Rare Neurological Diseases.
Mol Ther
; 28(10): 2104-2105, 2020 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949496
15.
Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I.
J Biol Chem
; 289(52): 36194-203, 2014 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25359774
16.
Quantitative charge-tags for sterol and oxysterol analysis.
Clin Chem
; 61(2): 400-11, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512642
17.
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Mol Genet Metab
; 114(2): 129-37, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25467058
18.
Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity.
J Inherit Metab Dis
; 37(1): 1-12, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23653226
19.
Busulfan conditioning enhances engraftment of hematopoietic donor-derived cells in the brain compared with irradiation.
Mol Ther
; 21(4): 868-76, 2013 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423338
20.
Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease.
Mol Ther
; 21(10): 1938-49, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23748415