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1.
Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy.
Mol Ther
; 32(1): 44-58, 2024 Jan 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-37952085
2.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38613540
3.
Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.
Blood
; 137(13): 1719-1730, 2021 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33150395
4.
Evolving therapies in neuronopathic LSDs: opportunities and challenges.
Metab Brain Dis
; 37(7): 2245-2256, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35442005
5.
ß-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice.
Int J Mol Sci
; 23(16)2022 Aug 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36012705
6.
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Genet Med
; 23(3): 555-561, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33214709
7.
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Mol Genet Metab
; 134(1-2): 53-59, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33832819
8.
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord
; 36(6): 1342-1352, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33200489
9.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Anal Chem
; 92(9): 6341-6348, 2020 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31922725
10.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
; 22(6): 1108-1118, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32089546
11.
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
Mol Genet Metab
; 131(1-2): 181-196, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32917509
12.
Rapid reconstitution of regulatory T-cell subsets is associated with reduced rates of acute graft-versus-host disease and absence of viremia after cord blood transplantation in children with reduced-intensity conditioning using alemtuzumab.
Cytotherapy
; 22(3): 149-157, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32089448
13.
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients.
Int J Mol Sci
; 21(15)2020 Jul 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-32707880
14.
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation.
Biol Blood Marrow Transplant
; 25(3): 538-548, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30292747
15.
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Genet Med
; 21(7): 1644-1651, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30546085
16.
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB.
Mol Genet Metab
; 126(2): 131-138, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30635159
17.
The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.
Clin Trials
; 16(4): 410-418, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31055958
18.
General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.
Paediatr Anaesth
; 29(10): 1053-1059, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31359511
19.
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.
Clin Chem
; 63(8): 1363-1369, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28592445
20.
Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms.
Mol Genet Metab
; 122S: 1-7, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29074036