Detalhe da pesquisa
1.
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Orphanet J Rare Dis
; 16(1): 238, 2021 05 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34022924
2.
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Genes (Basel)
; 12(1)2020 12 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33375644
3.
Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.
Spec Care Dentist
; 38(3): 176-184, 2018 May.
Artigo
Inglês
| MEDLINE | ID: mdl-29722897
4.
Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism.
J Pediatr Endocrinol Metab
; 29(1): 71-6, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26356361
5.
Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential.
Case Rep Ophthalmol
; 3(1): 104-12, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22548043
6.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Genet Mol Biol
; 33(4): 589-604, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21637564