Detalhe da pesquisa
1.
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Int J Mol Sci
; 25(5)2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474117
2.
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Genet Mol Biol
; 47(1): e20220335, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593426
3.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Genet Mol Biol
; 47(1): e20230285, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488524
4.
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
J Pediatr Hematol Oncol
; 45(7): 416-422, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37539993
5.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868845
6.
Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II.
Metab Brain Dis
; 37(6): 2089-2102, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797484
7.
Clinical trials for genetic diseases in Latin America.
Am J Med Genet C Semin Med Genet
; 187(3): 381-387, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480410
8.
Retraction notice to Plexin-B1 and Semaphorin 4D Cooperate to Promote Perineural Invasion in a RhoA/ROK-Dependent Manner Am J Pathol 180 (2012) 1232-1242.
Am J Pathol
; 190(7): 1581, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571495
9.
Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy.
Heart Vessels
; 34(2): 290-295, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30136169
10.
Lysosomal diseases: Overview on current diagnosis and treatment.
Genet Mol Biol
; 42(1 suppl 1): 165-177, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067291
11.
Plexin-B1 and semaphorin 4D cooperate to promote perineural invasion in a RhoA/ROK-dependent manner.
Am J Pathol
; 180(3): 1232-1242, 2012 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22252234
12.
Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis.
J Neuromuscul Dis
; 10(6): 1145-1149, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37781817
13.
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Orphanet J Rare Dis
; 18(1): 309, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37784132
14.
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2).
Adv Rheumatol
; 63(1): 23, 2023 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217999
15.
Analysis of socio-demographic and systemic health factors and the normative conditions of oral health care in a population of the Brazilian elderly.
Gerodontology
; 29(2): e206-14, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21083742
16.
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
Ther Clin Risk Manag
; 18: 1143-1155, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36578769
17.
Genome editing in lysosomal disorders.
Prog Mol Biol Transl Sci
; 182: 289-325, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34175045
18.
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.
Psychiatr Genet
; 31(5): 199-204, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347683
19.
Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy.
Front Cardiovasc Med
; 8: 801147, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35097020
20.
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
J Clin Endocrinol Metab
; 106(2): 539-553, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141165