Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Marie Françoise Vincent"'
Autor:
Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke, Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developi
Externí odkaz:
https://doaj.org/article/2dc4256c7b404443ba1a0495f3f1c794
Autor:
Christophe Angelo, Marie-Françoise Vincent, Mina Komuta, Philippe Hantson, Nicole Straetmans, Edwige Boulet
Publikováno v:
Case Reports in Hematology, Vol 2020 (2020)
Idiopathic hyperammonemia is a rare but potentially fatal complication occurring in patients with acute leukemia or bone marrow transplantation. The role of some specific anticancer drugs may be discussed, but the etiology of hyperammonemia is often
Externí odkaz:
https://doaj.org/article/a24ed0c1c2a64c2f8b7c7f8b1b1b2618
Autor:
Rim Rzem, Younes Achouri, Etienne Marbaix, Olivier Schakman, Elsa Wiame, Sandrine Marie, Philippe Gailly, Marie-Françoise Vincent, Maria Veiga-da-Cunha, Emile Van Schaftingen
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119540 (2015)
The purpose of the present work was to progress in our understanding of the pathophysiology of L-2-hydroxyglutaric aciduria, due to a defect in L-2-hydroxyglutarate dehydrogenase, by creating and studying a mouse model of this disease. L-2-hydroxyglu
Externí odkaz:
https://doaj.org/article/ab322ed67c7840d9a816df083068a298
Autor:
Marie-Cécile Nassogne, Imen Dorboz, Dana Dumitriu, Jean-François Benoist, Agnès Bourillon, Raphaël Helaers, Monique Elmaleh-Bergès, Apolline Imbard, Odile Boespflug-Tanguy, Marie-Françoise Vincent, Emile Van Schaftingen, Joseph P. Dewulf, Manuel Schiff, Alisha Malla, Avner Schlessinger, Ron A. Wevers, Malgorzata Rak, Florence Renaldo, Elsa Wiame
Publikováno v:
Annals of Neurology. 85:385-395
Objective SLC13A3 encodes the plasma membrane Na+ /dicarboxylate cotransporter 3, which imports inside the cell 4 to 6 carbon dicarboxylates as well as N-acetylaspartate (NAA). SLC13A3 is mainly expressed in kidney, in astrocytes, and in the choroid
Autor:
Nicolas Cecere, Corinne Hubinont, Arnauld Kabulu Kadingi, Marie-Françoise Vincent, Peter Van den Bergh, Anna Onnela, Philippe Hantson
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2013 (2013)
A 31-year-old pregnant woman ( weeks) was admitted with extreme tachypnea. She had a previous history of congenital muscular dystrophy (Ullrich’s disease) and isolated glucosuria. The patient had reduced food intake during the last 24 hours prior t
Externí odkaz:
https://doaj.org/article/cdcd997a27944fcfa0889ff508db3162
Autor:
Francis Ramond, Irène Ceballos, Paul Kuentz, Sandrine Marie, Kareen Billiemaz, Bénédicte Héron, Marie-Françoise Vincent, Marlène Rio, Monique Piraud, Anne-Sophie Denommé-Pichon, Renaud Touraine, Apolline Imbard
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 43(6)
5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de nov
Autor:
Marie-Françoise Vincent, Nicole Straetmans, Mina Komuta, Philippe Hantson, Christophe Angelo, Edwige Boulet
Publikováno v:
Case reports in hematology, Vol. 2020, p. 3136074 [1-4] (2020)
Case Reports in Hematology, Vol 2020 (2020)
Case Reports in Hematology
Case Reports in Hematology, Vol 2020 (2020)
Case Reports in Hematology
Idiopathic hyperammonemia is a rare but potentially fatal complication occurring in patients with acute leukemia or bone marrow transplantation. The role of some specific anticancer drugs may be discussed, but the etiology of hyperammonemia is often
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8466b9779c064ee44dcd200970b1c64
https://hdl.handle.net/2078.1/241904
https://hdl.handle.net/2078.1/241904
Autor:
Stefanie Vandevijvere, Wim Coucke, Jean Vanderpas, Caroline Trumpff, Maarten Fauvart, Ann Meulemans, Sandrine Marie, Marie-Françoise Vincent, Roland Schoos, François Boemer, Timothy Vanwynsberghe, Eddy Philips, François Eyskens, Brigitte Wuyts, Valbona Selimaj, Bart Van Overmeire, Christine Kirkpatrick, Herman Van Oyen, Rodrigo Moreno-Reyes
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e47770 (2012)
It has been proposed that neonatal thyroid-stimulating hormone (TSH) concentrations are a good indicator of iodine deficiency in the population. A frequency of neonatal TSH concentrations above 5 mU/L below 3% has been proposed as the threshold indic
Externí odkaz:
https://doaj.org/article/0afcf7c5986f4666bf26c0bfb35da2e4
Autor:
François Jouret, Pierre J. Courtoy, Virginie Janssens, Corinne Antignac, Seppo Vainio, Christophe E. Pierreux, Rikke Nielsen, Nathalie Nevo, Héloïse P. Gaide Chevronnay, Erik Ilsø Christensen, Sandrine Marie, Marie-Françoise Vincent, Patrick Van Der Smissen
Publikováno v:
Janssens, V, Gaide Chevronnay, H P, Marie, S, Vincent, M-F, Van Der Smissen, P, Nevo, N, Vainio, S, Nielsen, R, Christensen, E I, Jouret, F, Antignac, C, Pierreux, C E & Courtoy, P J 2019, ' Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression ', Journal of the American Society of Nephrology : JASN, vol. 30, no. 11, pp. 2177-2190 . https://doi.org/10.1681/ASN.2019040371
J Am Soc Nephrol
J Am Soc Nephrol
BACKGROUND: Deletions or inactivating mutations of the cystinosin gene CTNS lead to cystine accumulation and crystals at acidic pH in patients with nephropathic cystinosis, a rare lysosomal storage disease and the main cause of hereditary renal Fanco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb94f3356386729d3e45a1c5fb101451
https://pure.au.dk/portal/da/publications/protection-of-cystinotic-mice-by-kidneyspecific-megalin-ablation-supports-an-endocytosisbased-mechanism-for-nephropathic-cystinosis-progression(79740452-96a0-430e-9a37-73aa7c55f5a4).html
https://pure.au.dk/portal/da/publications/protection-of-cystinotic-mice-by-kidneyspecific-megalin-ablation-supports-an-endocytosisbased-mechanism-for-nephropathic-cystinosis-progression(79740452-96a0-430e-9a37-73aa7c55f5a4).html
Autor:
Marie-Cécile Nassogne, Julien Favresse, Marie-Françoise Vincent, Catherine Fillée, Damien Gruson, Pierre-Françoise Laterre, Lidvine Boland, Noémie Despas
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 56:e65-e68