Search research articles
Contact Us
Filters
Showing results (31-40 of 42) with videos related to
Page
of 5
Sort By:
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 10, 2021
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy
Alexandre Raynor, Walid Haouari, Bobby G Ng, et al.
Journal of Cardiothoracic and Vascular Anesthesia
|
December 9, 2021
Blood Lactate During Double-Lung Transplantation: A Predictor of Grade-3 Primary Graft Dysfunction
Julien Fessler, Alexandre Vallée, Avit Guirimand, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 5, 2019
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
Tiffany Pascreau, Maria E de la Morena-Barrio, Dominique Lasne, et al.
Haematologica
|
August 18, 2018
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation
Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, et al.
British Journal of Haematology
|
January 21, 2021
Assessing bleeding risk in 18 children with Osteogenesis imperfecta
Teddy Léguillier, Rémi Favier, Annie Harroche, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
Molecular Genetics and Metabolism
|
August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
Camille Wicker, Charles-Joris Roux, Louise Goujon, et al.
American Journal of Human Genetics
|
May 8, 2021
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
Bobby G Ng, Paulina Sosicka, François Fenaille, et al.
Journal of Medical Genetics
|
September 29, 2017
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
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 10, 2021
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy
Alexandre Raynor, Walid Haouari, Bobby G Ng, et al.
Journal of Cardiothoracic and Vascular Anesthesia
|
December 9, 2021
Blood Lactate During Double-Lung Transplantation: A Predictor of Grade-3 Primary Graft Dysfunction
Julien Fessler, Alexandre Vallée, Avit Guirimand, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 5, 2019
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
Tiffany Pascreau, Maria E de la Morena-Barrio, Dominique Lasne, et al.
Haematologica
|
August 18, 2018
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation
Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, et al.
British Journal of Haematology
|
January 21, 2021
Assessing bleeding risk in 18 children with Osteogenesis imperfecta
Teddy Léguillier, Rémi Favier, Annie Harroche, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
Molecular Genetics and Metabolism
|
August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
Camille Wicker, Charles-Joris Roux, Louise Goujon, et al.
American Journal of Human Genetics
|
May 8, 2021
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
Bobby G Ng, Paulina Sosicka, François Fenaille, et al.
Journal of Medical Genetics
|
September 29, 2017
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
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Page
of 5