Detalhe da pesquisa
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
2.
High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system.
Mol Genet Metab
; 109(4): 382-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23845234
3.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology
; 100(6): e603-e615, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307226
4.
Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses.
Mol Genet Metab
; 97(3): 234-6, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19427803
5.
CDKL5 and ARX mutations in males with early-onset epilepsy.
Pediatr Neurol
; 48(5): 367-77, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583054