Detalhe da pesquisa
1.
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
2.
Biological Variation in Peripheral Inflammation and Oxidative Stress Biomarkers in Individuals with Gaucher Disease.
Int J Mol Sci
; 23(16)2022 Aug 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36012454
3.
GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies.
Mol Genet Metab
; 129(2): 35-46, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31761523
4.
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
J Inherit Metab Dis
; 43(3): 564-573, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31613991
5.
Orphan drug development: the increasing role of clinical pharmacology.
J Pharmacokinet Pharmacodyn
; 46(5): 395-409, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31338634
6.
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
Br J Clin Pharmacol
; 81(6): 1058-66, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26836218
7.
A hierarchical Bayesian approach for combining pharmacokinetic/pharmacodynamic modeling and Phase IIa trial design in orphan drugs: Treating adrenoleukodystrophy with Lorenzo's oil.
J Biopharm Stat
; 26(6): 1025-1039, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27547896
8.
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Mol Genet Metab
; 130(3): 164-169, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32471800
9.
microRNAs in the Malignant Transformation Process.
Adv Exp Med Biol
; 889: 1-21, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26658993
10.
MicroRNA-mediated gene regulations in human sarcomas.
Cell Mol Life Sci
; 69(21): 3571-85, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22922987
11.
N-acetylcysteine Pharmacology and Applications in Rare Diseases-Repurposing an Old Antioxidant.
Antioxidants (Basel)
; 12(7)2023 Jun 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37507857
12.
Enhanced detection of hydrogen sulfide generated in cell culture using an agar trap method.
Anal Biochem
; 423(1): 102-8, 2012 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22274539
13.
Gaucher disease - more than just a rare lipid storage disease.
J Mol Med (Berl)
; 100(4): 499-518, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35066608
14.
Building cross-border collaborations to increase diversity and accelerate rare disease drug development - meeting report from the inaugural IndoUSrare Annual Conference 2021.
Ther Adv Rare Dis
; 3: 26330040221133124, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-37180411
15.
Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy.
Neurotherapeutics
; 19(3): 1007-1017, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35378685
16.
Physiologically-Based Pharmacokinetic Model Development, Validation, and Application for Prediction of Eliglustat Drug-Drug Interactions.
Clin Pharmacol Ther
; 112(6): 1254-1263, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36056771
17.
N-Acetylcysteine Reverses the Mitochondrial Dysfunction Induced by Very Long-Chain Fatty Acids in Murine Oligodendrocyte Model of Adrenoleukodystrophy.
Biomedicines
; 9(12)2021 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34944641
18.
Population Pharmacokinetic Analysis of N-Acetylcysteine in Pediatric Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplant.
J Clin Pharmacol
; 61(12): 1638-1645, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34275158
19.
Identifying Biological Signatures of N-Acetylcysteine for Non-Suicidal Self-Injury in Adolescents and Young Adults.
J Psychiatr Brain Sci
; 62021.
Artigo
Inglês
| MEDLINE | ID: mdl-34036177
20.
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities.
Orphanet J Rare Dis
; 16(1): 446, 2021 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34688299