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.
Relationship Between Preoperative Inflammation Ratios Derived From Preoperative Blood Cell Count and Postoperative Pulmonary Complications in Patients Undergoing Lobectomy: A Single-Center Observational Study.
J Cardiothorac Vasc Anesth;
38(2): 482-489, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38016820
3.
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
4.
Blood Lactate During Double-Lung Transplantation: A Predictor of Grade-3 Primary Graft Dysfunction.
J Cardiothorac Vasc Anesth;
36(3): 794-804, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34879926
5.
A low level of CD16pos monocytes in SARS-CoV-2 infected patients is a marker of severity.
Clin Chem Lab Med;
59(7): 1315-1322, 2021 Jun 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33606928
6.
The Panbio COVID-19 Ag Rapid Test: Which Performances are for COVID-19 Diagnosis?
Clin Lab;
67(11)2021 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34758228
7.
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
8.
The Allplex 2019-nCoV (Seegene) assay: which performances are for SARS-CoV-2 infection diagnosis?
Eur J Clin Microbiol Infect Dis;
39(10): 1997-2000, 2020 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32462501
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.
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
11.
Letter to the editor regarding "Protein Z and Protein Z-dependent protease inhibitor in patients with acute ischemic stroke: A prospective mechanistic study".
J Stroke Cerebrovasc Dis;
33(1): 107480, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37953074
12.
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
13.
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
14.
Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.
Blood Cells Mol Dis;
56(1): 9-22, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26603718
15.
The high frequency of anti-PF4/heparin antibodies in patients with COVID-19 is neither related to heparin treatment or to an increased incidence of thrombosis.
Clin Chem Lab Med;
59(11): e405-e408, 2021 10 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34187132
16.
A high blood endocan profile during COVID-19 distinguishes moderate from severe acute respiratory distress syndrome.
Crit Care;
25(1): 166, 2021 05 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33957951
17.
Interest in the new thromboelastometry device, Clot Pro®, for predicting thrombocytopenia and hypofibrinogenemia during lung transplantation.
Thromb Res;
233: 203-211, 2024 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38128338
18.
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Haematologica;
103(12): e613-e617, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30115659
19.
Hemostatic defects in congenital disorders of glycosylation.
Res Pract Thromb Haemost;
7(3): 100142, 2023 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37193126
20.
Prognostic value of cellular population data in patients with COVID-19.
Inform Med Unlocked;
38: 101207, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36919041