Detalhe da pesquisa
1.
α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.
Mol Ther
; 32(3): 609-618, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38204164
2.
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
Mol Genet Metab
; 139(3): 107603, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236007
3.
Long-Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency.
J Pediatr Gastroenterol Nutr
; 74(6): 757-764, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35442238
4.
Growth Differentiation Factor-15 and Syndecan-1 Are Potential Biomarkers of Cardiac and Renal Involvement in Classical Fabry Disease under Enzyme Replacement Therapy.
Kidney Blood Press Res
; 47(4): 229-238, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086103
5.
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil.
Mol Ther
; 29(7): 2378-2386, 2021 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781915
6.
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.
Int J Mol Sci
; 22(20)2021 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34681597
7.
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
BMC Med Genet
; 21(1): 37, 2020 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32075597
8.
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
Blood
; 129(17): 2375-2383, 2017 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28167660
9.
Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI.
Genet Mol Biol
; 42(1): 1-8, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776046
10.
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
BMC Endocr Disord
; 18(1): 83, 2018 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30419879
11.
Impaired Hematopoiesis and Disrupted Monocyte/Macrophage Homeostasis in Mucopolysaccharidosis Type I Mice.
J Cell Physiol
; 231(3): 698-707, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235607
12.
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.
Lancet
; 385(9985): 2355-62, 2015 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25819691
13.
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.
Mol Genet Metab
; 119(1-2): 151-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510433
14.
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
Mol Genet Metab
; 114(2): 186-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25582974
15.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Blood Cells Mol Dis
; 77: 101-102, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31029022
16.
Endoscopic Findings in Lysosomal Acid Lipase Deficiency.
J Pediatr Gastroenterol Nutr
; 68(6): e105, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29762191
17.
Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center.
Sleep Breath
; 18(4): 791-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705807
18.
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Genet Mol Biol
; 37(2): 315-29, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25071396
19.
Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy.
Toxicol Mech Methods
; 24(8): 603-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25141890
20.
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Blood Cells Mol Dis
; 71: 71-74, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29680197