Detalhe da pesquisa
1.
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.
Cerebellum
; 22(4): 708-718, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796998
2.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Am J Med Genet C Semin Med Genet
; 187(3): 349-356, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960103
3.
Effects of psyllium on LDL-cholesterol concentrations in Brazilian children and adolescents: a randomised, placebo-controlled, parallel clinical trial.
Br J Nutr
; 113(1): 134-41, 2015 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25391814
4.
Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.
Cerebellum
; 13(1): 17-28, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23943520
5.
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Genet Mol Biol
; 37(1): 23-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24688287
6.
The Cardiovascular Health Integrated Lifestyle Diet (CHILD) Lowers LDL-Cholesterol Levels in Brazilian Dyslipidemic Pediatric Patients.
J Am Nutr Assoc
; 41(4): 352-359, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683168
7.
Pain perception genes, asthma, and oral health: A reverse genetics study.
PLoS One
; 17(11): e0277036, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36395102
8.
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
Mol Syndromol
; 12(4): 219-233, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421500
9.
GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil.
Arq Neuropsiquiatr
; 77(2): 73-79, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30810589
10.
Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence?
J Thyroid Res
; 2017: 2793205, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29479488
11.
GBA mutations p.N370S and p. L444P are associated with Parkinson's disease in patients from Northern Brazil / Mutações p.N370S e p. L444P no gene GBA estão associadas com doença de Parkinson em pacientes do norte do Brasil
Arq. neuropsiquiatr
; 77(2): 73-79, Feb. 2019. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-983882
12.
Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint.
Oral Surg Oral Med Oral Pathol Oral Radiol
; 116(2): e141-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849382
13.
Avaliação antropométrica de pacientes com suspeita de erros inatos do metabolismo / Anthropometric evaluation of patients with suspected innate errors of metabolism
Rev. bras. saúde matern. infant
; 12(3): 297-305, ago.-set. 2012. tab
Artigo
em Português
| LILACS, BVSAM | ID: lil-650695
14.
Dislipidemia e fatores de risco (y factores de riesgo) cardiovascular na (en la) população pediátrica brasileira / Dyslipidemia and cardiovascular risk factors among the pediatric population in Brazil
Salud(i)ciencia (Impresa)
; 20(4): 404-412, mar.-2014. tab
Artigo
em Português
| LILACS | ID: lil-790857
15.
Molecular characterization of phenylketonuria in South Brazil.
Mol Genet Metab
; 79(1): 17-24, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12765842