Detalhe da pesquisa
1.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Am J Hum Genet
; 108(6): 1040-1052, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964207
2.
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Mol Genet Metab
; 140(3): 107674, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542768
3.
Emicizumab does not interfere with the activated clotting time.
Haemophilia
; 28(2): 362-366, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35060654
4.
NAADP/SERCA3-Dependent Ca2+ Stores Pathway Specifically Controls Early Autocrine ADP Secretion Potentiating Platelet Activation.
Circ Res
; 127(7): e166-e183, 2020 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588751
5.
Endothelial Dysfunction as a Component of Severe Acute Respiratory Syndrome Coronavirus 2-Related Multisystem Inflammatory Syndrome in Children With Shock.
Crit Care Med
; 49(11): e1151-e1156, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34049308
6.
An ADAM-10 dependent EPCR shedding links meningococcal interaction with endothelial cells to purpura fulminans.
PLoS Pathog
; 14(4): e1006981, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29630665
7.
Long term outcome of MPI-CDG patients on D-mannose therapy.
J Inherit Metab Dis
; 43(6): 1360-1369, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098580
8.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
9.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Genet Med
; 21(5): 1181-1188, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293989
10.
Complex formation with pentraxin-2 regulates factor X plasma levels and macrophage interactions.
Blood
; 129(17): 2443-2454, 2017 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213380
11.
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence.
Haematologica
; 104(12): 2493-2500, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819911
12.
The effects of time and temperature on the in vitro stability of emicizumab in blood samples: Implications for laboratory and clinical practices.
Haemophilia
; 30(2): 554-557, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38146237
13.
Emicizumab and asparaginase, A first experience to share.
Haemophilia
; 30(2): 561-563, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240017
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740725
15.
Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.
Arterioscler Thromb Vasc Biol
; 38(5): 1037-1051, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29519941
16.
Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report.
BMC Infect Dis
; 19(1): 302, 2019 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30943907
17.
Inactivated antithombin as anticoagulant reversal in a rat model of cardiopulmonary bypass: a potent and potentially safer alternative to protamine.
Br J Haematol
; 180(5): 715-720, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29363751
18.
Interferences by factor VIII and lupus anticoagulant in the modified one-stage assay for emicizumab.
Haemophilia
; 29(6): 1661-1664, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751318
19.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28954837
20.
Assessing bleeding risk in 18 children with Osteogenesis imperfecta.
Br J Haematol
; 192(4): 785-788, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475155