User profiles for "author:Delphine Borgel"
 | Borgel Delphineuniversité Paris Sud Verified email at u-psud.fr Cited by 4815 |
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of …
Background Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is
a multisystem inborn error of metabolism. Objectives To better characterise the natural …
a multisystem inborn error of metabolism. Objectives To better characterise the natural …
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up
R Altassan, R Péanne, J Jaeken… - Journal of inherited …, 2019 - Wiley Online Library
Abstract Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of
N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and …
N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and …
Inflammation in deep vein thrombosis: a therapeutic target?
Deep vein thrombosis is a common disease associated with a variety of complications
including post-thrombotic syndrome as a late complication. It is now clear that in addition to …
including post-thrombotic syndrome as a late complication. It is now clear that in addition to …
Malignant cells fuel tumor growth by educating infiltrating leukocytes to produce the mitogen Gas6
S Loges, T Schmidt, M Tjwa… - Blood, The Journal …, 2010 - ashpublications.org
The transforming and tumor growth–promoting properties of Axl, a member of the Tyro3, Axl,
and Mer (TAM) family of receptor tyrosine kinases (TAMRs), are well recognized. In contrast …
and Mer (TAM) family of receptor tyrosine kinases (TAMRs), are well recognized. In contrast …
Decreased ADAMTS-13 (A disintegrin-like and metalloprotease with thrombospondin type 1 repeats) is associated with a poor prognosis in sepsis-induced organ …
Objective: The inability to regulate the inflammatory response initiated upon infection leads
to severe sepsis, characterized by widespread microvascular injury and thrombosis, organ …
to severe sepsis, characterized by widespread microvascular injury and thrombosis, organ …
Elevated growth-arrest-specific protein 6 plasma levels in patients with severe sepsis
D Borgel, S Clauser, C Bornstain, I Bièche… - Critical care …, 2006 - journals.lww.com
Objective: Growth-arrest-specific protein 6 (Gas6), an intracellular protein released by
apoptotic cells, has been detected in normal plasma. As the Gas6 system has been …
apoptotic cells, has been detected in normal plasma. As the Gas6 system has been …
Inefficacy of ultrasound-guided local injections of autologous conditioned plasma for recent epicondylitis: results of a double-blind placebo-controlled randomized …
Objectives. The aim was to assess the efficacy of two intra-tendinous injections of platelet-
rich plasma (PRP) on epicondylitis of recent evolution (≤ 3 months). Methods. Our study …
rich plasma (PRP) on epicondylitis of recent evolution (≤ 3 months). Methods. Our study …
Design and Synthesis of Tubulin and Histone Deacetylase Inhibitor Based on iso-Combretastatin A-4
D Lamaa, HP Lin, L Zig, C Bauvais… - Journal of Medicinal …, 2018 - ACS Publications
Designing multitarget drugs have raised considerable interest due to their advantages in the
treatment of complex diseases such as cancer. Their design constitutes a challenge in …
treatment of complex diseases such as cancer. Their design constitutes a challenge in …
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
A Čechová, R Altassan, D Borgel… - Journal of inherited …, 2020 - Wiley Online Library
Mannose phosphate isomerase‐congenital disorder of glycosylation (MPI‐CDG) deficiency
is a rare subtype of congenital disorders of protein N‐glycosylation. It is characterised by …
is a rare subtype of congenital disorders of protein N‐glycosylation. It is characterised by …
TUBB 1 Mutations cause thyroid dysgenesis associated with abnormal platelet physiology
A Stoupa, F Adam, D Kariyawasam… - EMBO molecular …, 2018 - embopress.org
The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain
largely unknown. We identified three novel TUBB 1 gene mutations that co‐segregated with …
largely unknown. We identified three novel TUBB 1 gene mutations that co‐segregated with …