Detalhe da pesquisa
1.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Am J Med Genet A
; 188(3): 760-767, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806811
2.
Clinical research challenges in rare genetic diseases in Brazil.
Genet Mol Biol
; 42(1 suppl 1): 305-311, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170279
3.
Emerging drugs for the treatment of mucopolysaccharidoses.
Expert Opin Emerg Drugs
; 21(1): 9-26, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26751109
4.
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
JIMD Rep
; 60(1): 23-31, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258138
5.
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
JIMD Rep
; 49(1): 96-106, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497487
6.
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Orphanet J Rare Dis
; 13(1): 110, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976218
7.
Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese
J. inborn errors metab. screen
; 7: e20180001, 2019. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090975
8.
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
J Pediatr (Rio J)
; 87(3): 245-51, 2011.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-21660367
9.
Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase / Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency
J. pediatr. (Rio J.)
; 87(3): 245-251, maio-jun. 2011. ilus, tab
Artigo
em Português
| LILACS | ID: lil-593191