Detalhe da pesquisa
1.
Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.
Ann Neurol
; 94(6): 1182-1186, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679306
2.
Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse model.
Gene Ther
; 30(1-2): 18-30, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790794
3.
VUS: Variant of uncertain significance or very unclear situation?
Mol Genet Metab
; 140(1-2): 107678, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37574344
4.
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
Mol Genet Metab
; 140(3): 107669, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542767
5.
Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II.
Mol Genet Metab
; 138(4): 107539, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37023503
6.
Blood Levels of Environmental Heavy Metals are Associated with Poorer Iron Status in Ugandan Children: A Cross-Sectional Study.
J Nutr
; 153(10): 3023-3031, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598752
7.
Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study.
J Inherit Metab Dis
; 46(4): 695-704, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840680
8.
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.
Mol Genet Metab
; 132(3): 189-197, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33317989
9.
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Blood
; 133(12): 1378-1381, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635285
10.
Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground.
Mov Disord
; 36(12): 2901-2909, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329526
11.
Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy.
J Inherit Metab Dis
; 44(6): 1434-1440, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34499753
12.
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
J Inherit Metab Dis
; 44(3): 728-739, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33373467
13.
Differences in MPS I and MPS II Disease Manifestations.
Int J Mol Sci
; 22(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360653
14.
Volume of Gadolinium Enhancement and Successful Repair of the Blood-Brain Barrier in Cerebral Adrenoleukodystrophy.
Biol Blood Marrow Transplant
; 26(10): 1894-1899, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32599216
15.
Reduced-Toxicity (BuFlu) Conditioning Is Better Tolerated but Has a Higher Second Transplantation Rate Compared to Myeloablative Conditioning (BuCy) in Children with Inherited Metabolic Disorders.
Biol Blood Marrow Transplant
; 26(3): 486-492, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31751770
16.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
N Engl J Med
; 377(17): 1630-1638, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976817
17.
Cerebral adrenoleukodystrophy is associated with loss of tolerance to profilin.
Eur J Immunol
; 49(6): 947-953, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30829395
18.
Maternal Instruction About Jaundice and the Incidence of Acute Bilirubin Encephalopathy in Nigeria.
J Pediatr
; 221: 47-54.e4, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145967
19.
Humanized zebrafish enhance human hematopoietic stem cell survival and promote acute myeloid leukemia clonal diversity.
Haematologica
; 105(10): 2391-2399, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054079
20.
Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation.
Pediatr Res
; 87(1): 104-111, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31434105