Detalhe da pesquisa
1.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
2.
SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey.
Am J Med Genet C Semin Med Genet
; 187(3): 301-311, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33474836
3.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
4.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523599
5.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 786, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588455
6.
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.
Genet Mol Biol
; 37(4): 616-21, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25505834
7.
Hepatic glycogen storage diseases are associated to microbial dysbiosis.
PLoS One
; 14(4): e0214582, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30939160
8.
Correction: Hepatic glycogen storage diseases are associated to microbial dysbiosis.
PLoS One
; 14(6): e0218254, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170256
9.
A Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Mimics on Brain Magnetic Resonance Imaging in Myotonic Dystrophy Type I.
JAMA Neurol
; 74(7): 866-867, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459935