Detalhe da pesquisa
1.
Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.
Ann Neurol
; 94(6): 1182-1186, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37679306
2.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37870986
3.
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
Mol Genet Metab
; 140(3): 107669, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37542767
4.
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
Inglês
| MEDLINE | ID: mdl-36840680
5.
Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes.
Mol Genet Metab
; 136(1): 22-27, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35304037
6.
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Mol Genet Metab
; 135(2): 122-132, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35012890
7.
Translational and clinical pharmacology considerations in drug repurposing for X-linked adrenoleukodystrophy-A rare peroxisomal disorder.
Br J Clin Pharmacol
; 88(6): 2552-2563, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34558098
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
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
Inglês
| MEDLINE | ID: mdl-30635285
10.
Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy.
J Inherit Metab Dis
; 44(6): 1434-1440, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34499753
11.
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
Inglês
| MEDLINE | ID: mdl-33373467
12.
Outcomes of Children Who Present to the Emergency Department After Hematopoietic Cell Transplantation.
Pediatr Emerg Care
; 37(12): e1402-e1408, 2021 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32097376
13.
Differences in MPS I and MPS II Disease Manifestations.
Int J Mol Sci
; 22(15)2021 Jul 23.
Artigo
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
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
Inglês
| MEDLINE | ID: mdl-31751770
16.
A Phase 2 Trial of KIR-Mismatched Unrelated Donor Transplantation Using in Vivo T Cell Depletion with Antithymocyte Globulin in Acute Myelogenous Leukemia: Children's Oncology Group AAML05P1 Study.
Biol Blood Marrow Transplant
; 26(4): 712-717, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31870931
17.
Indications for Hematopoietic Cell Transplantation and Immune Effector Cell Therapy: Guidelines from the American Society for Transplantation and Cellular Therapy.
Biol Blood Marrow Transplant
; 26(7): 1247-1256, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32165328
18.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
N Engl J Med
; 377(17): 1630-1638, 2017 10 26.
Artigo
Inglês
| MEDLINE | ID: mdl-28976817
19.
Cerebral adrenoleukodystrophy is associated with loss of tolerance to profilin.
Eur J Immunol
; 49(6): 947-953, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30829395
20.
Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation.
Pediatr Res
; 87(1): 104-111, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31434105