Detalles de la búsqueda
1.
Zero knowledge and high interest in the use of long-acting injectable pre-exposure prophylaxis (PrEP) among adolescent men who have sex with men and transgender women in two capital cities in Brazil.
BMC Public Health
; 22(1): 1728, 2022 09 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36096758
2.
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
Int J Mol Sci
; 23(15)2022 Aug 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35955863
3.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32681750
4.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis
; 42(1): 5-28, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740725
5.
CDG Therapies: From Bench to Bedside.
Int J Mol Sci
; 19(5)2018 Apr 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-29702557
6.
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Hum Mutat
; 38(2): 160-168, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27774737
7.
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Hum Mutat
; 36(9): 851-60, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26014514
8.
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
Hum Mol Genet
; 22(18): 3680-9, 2013 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23674520
9.
"It was unusual but amazing": demand creation for PrEP among adolescents' men who have sex with men (MSM) and transgender women (TGW) in Brazil.
Cad Saude Publica
; 40(4): e00066423, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38775571
10.
The social construction of the PrEP1519 study: conditions of possibility for advances in HIV/AIDS prevention.
Cad Saude Publica
; 39Suppl 1(Suppl 1): e00201621, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36995869
11.
Congenital disorders of glycosylation (CDG): state of the art in 2022.
Orphanet J Rare Dis
; 18(1): 329, 2023 10 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37858231
12.
PrEP perception and experiences of adolescent and young gay and bisexual men: an intersectional analysis.
Cad Saude Publica
; 39Suppl 1(Suppl 1): e00134421, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36995863
13.
Between risk and pleasure: reflections on HIV prevention and care in the current context of PrEP use by men who have sex with men.
Cad Saude Publica
; 39Suppl 1(Suppl 1): e00139221, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36995864
14.
Building bridges to care: the experience of peer navigation in enabling linkage to PrEP for adolescent men who have sex with men and transgender women.
Cad Saude Publica
; 39Suppl 1(Suppl 1): e00176821, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36995868
15.
The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ).
Orphanet J Rare Dis
; 17(1): 134, 2022 03 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35331276
16.
Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.
Orphanet J Rare Dis
; 17(1): 303, 2022 07 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-35907899
17.
A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation.
Int J Environ Res Public Health
; 19(11)2022 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35682409
18.
A Participatory Framework for Plain Language Clinical Management Guideline Development.
Int J Environ Res Public Health
; 19(20)2022 10 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36294089
19.
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
Hum Mutat
; 32(9): 1019-27, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21542064
20.
Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.
Front Mol Biosci
; 8: 648012, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34026829