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Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy.
Published in:
2011
By:
- Odièvre, Marie-Hélène;
- Danékova, Névéna;
- Mesples, Bettina;
- Chemouny, Myriam;
- Couque, Nathalie;
- Parez, Nathalie;
- Ducrocq, Rolande;
- Elion, Jacques;
- Odièvre, Marie-Hélène;
- Danékova, Névéna
Publication type:
journal article
Evaluation of Outcomes and Quality of Care in Children with Sickle Cell Disease Diagnosed by Newborn Screening: A Real-World Nation-Wide Study in France.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1594, doi. 10.3390/jcm8101594
By:
- Brousse, Valentine;
- Arnaud, Cécile;
- Lesprit, Emmanuelle;
- Quinet, Béatrice;
- Odièvre, Marie-Hélène;
- Etienne-Julan, Maryse;
- Guillaumat, Cécile;
- Elana, Gisèle;
- Belloy, Marie;
- Garnier, Nathalie;
- Chamouine, Abdourahim;
- Dumesnil, Cécile;
- De Montalembert, Mariane;
- Pondarre, Corinne;
- Bernaudin, Françoise;
- Couque, Nathalie;
- Boutin, Emmanuelle;
- Bardakjian, Josiane;
- Djennaoui, Fatiha;
- Ithier, Ghislaine
Publication type:
Article
Dif?culté diagnostique d'un syndrome bêta-thalassémique chez une patiente multi-transfusée : apport du myélogramme et de l'étude des parents.
Published in:
Annales de Biologie Clinique, 2017, v. 75, n. 5, p. 562, doi. 10.1684/abc.2017.1284
By:
- Trawinski, Élisabeth;
- Fenneteau, Odile;
- Le Mouel, Lou;
- Ithier, Ghislaine;
- Couque, Nathalie
Publication type:
Article
Évaluation de la démarche diagnostique des hémoglobines hyperaffines: expérience franco-belge et revue de la littérature.
Published in:
Annales de Biologie Clinique, 2017, v. 75, n. 1, p. 39, doi. 10.1684/abc.2016.1204
By:
- Orvain, Corentin;
- Joly, Philippe;
- Pissard, Serge;
- Badiou, Stéphanie;
- Badens, Catherine;
- Bonello-Palot, Nathalie;
- Couque, Nathalie;
- Gulbis, Béatrice;
- Aguilar-Martinez, Patricia
Publication type:
Article
Delayed haemolytic transfusion reaction in paediatric patients with sickle cell disease: A retrospective study in a French national reference centre.
Published in:
British Journal of Haematology, 2023, v. 201, n. 1, p. 125, doi. 10.1111/bjh.18605
By:
- Rossi, Marica;
- Pirenne, France;
- Le Roux, Enora;
- Smaïne, Djamel;
- Belloy, Marie;
- Eyssette‐Guerreau, Stéphanie;
- Couque, Nathalie;
- Holvoet, Laurent;
- Ithier, Ghislaine;
- Brousse, Valentine;
- Koehl, Bérengère;
- Faye, Albert;
- Benkerrou, Malika;
- Missud, Florence
Publication type:
Article
Congenital methaemoglobinaemia and chronic haemolysis related to a rare form of unstable haemoglobin: Efficacy of riboflavin on clinical and biological features.
Published in:
British Journal of Haematology, 2023, v. 200, n. 3, p. 385, doi. 10.1111/bjh.18571
By:
- Le Calvez, Baptiste;
- Delecourt‐Billet, Marine;
- Grain, Audrey;
- Couque, Nathalie;
- Leblanc, Thierry
Publication type:
Article
Improvement of medical care in a cohort of newborns with sickle-cell disease in North Paris: impact of national guidelines.
Published in:
British Journal of Haematology, 2016, v. 173, n. 6, p. 927, doi. 10.1111/bjh.14015
By:
- Couque, Nathalie;
- Girard, Delphine;
- Ducrocq, Rolande;
- Boizeau, Priscilla;
- Haouari, Zinedine;
- Missud, Florence;
- Holvoet, Laurent;
- Ithier, Ghislaine;
- Belloy, Marie;
- Odièvre, Marie‐Héléne;
- Benemou, Michel;
- Benhaim, Patricia;
- Retali, Brigitte;
- Bensaid, Philippe;
- Monier, Brigitte;
- Brousse, Valentine;
- Amira, Roger;
- Orzechowski, Christine;
- Lesprit, Emmanuelle;
- Mangyanda, Laurent
Publication type:
Article
Clinical and haematological risk factors for cerebral macrovasculopathy in a sickle cell disease newborn cohort: a prospective study.
Published in:
British Journal of Haematology, 2016, v. 172, n. 6, p. 966, doi. 10.1111/bjh.13916
By:
- Sommet, Julie;
- Alberti, Corinne;
- Couque, Nathalie;
- Verlhac, Suzanne;
- Haouari, Zinedine;
- Mohamed, Damir;
- François, Martine;
- Missud, Florence;
- Holvoet, Laurent;
- Elmaleh, Monique;
- Ithier, Ghislaine;
- Denjean, André;
- Elion, Jacques;
- Baruchel, André;
- Benkerrou, Malika
Publication type:
Article
Impact of glucose-6-phosphate dehydrogenase deficiency on sickle cell anaemia expression in infancy and early childhood: a prospective study.
Published in:
British Journal of Haematology, 2013, v. 163, n. 5, p. 646, doi. 10.1111/bjh.12590
By:
- Benkerrou, Malika;
- Alberti, Corinne;
- Couque, Nathalie;
- Haouari, Zinedine;
- Ba, Aissatou;
- Missud, Florence;
- Boizeau, Priscilla;
- Holvoet, Laurent;
- Ithier, Ghislaine;
- Elion, Jacques;
- Baruchel, André;
- Ducrocq, Rolande
Publication type:
Article
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Published in:
Clinical Genetics, 2021, v. 100, n. 4, p. 396, doi. 10.1111/cge.14017
By:
- Lévy, Jonathan;
- Schell, Bérénice;
- Nasser, Hala;
- Rachid, Myriam;
- Ruaud, Lyse;
- Couque, Nathalie;
- Callier, Patrick;
- Faivre, Laurence;
- Marle, Nathalie;
- Engwerda, Aafke;
- van Ravenswaaij‐Arts, Conny M. A.;
- Plutino, Morgane;
- Karmous‐Benailly, Houda;
- Benech, Caroline;
- Redon, Sylvia;
- Boute, Odile;
- Boudry Labis, Elise;
- Rama, Mélanie;
- Kuentz, Paul;
- Assoumani, Jessica
Publication type:
Article
Comparison of automated erythrocytapheresis versus manual exchange transfusion to treat cerebral macrovasculopathy in sickle cell anemia.
Published in:
2016
By:
- Koehl, Bérengère;
- Sommet, Julie;
- Holvoet, Laurent;
- Abdoul, Hendy;
- Boizeau, Priscilla;
- Ithier, Ghislaine;
- Missud, Florence;
- Couque, Nathalie;
- Verlhac, Suzanne;
- Voultoury, Pauline;
- Sellami, Fatiha;
- Baruchel, André;
- Benkerrou, Malika
Publication type:
journal article
New approach to accurate interpretation of sickle cell disease newborn screening by applying multiple of median cutoffs and ratios.
Published in:
2018
By:
- Allaf, Bichr;
- Patin, Franck;
- Elion, Jacques;
- Couque, Nathalie
Publication type:
journal article
Molecular analysis of nonrandom 8q12 deletions in acute lymphoblastic leukemia: Identification of two candidate genes.
Published in:
Genes, Chromosomes & Cancer, 2002, v. 33, n. 2, p. 178, doi. 10.1002/gcc.10014
By:
- Bardet, Valérie;
- Couque, Nathalie;
- Cattolico, Laurence;
- Hetet, Gilles;
- Devaux, Isabelle;
- Duprat, Simone;
- Gressin, Laetitia;
- Vilmer, Etienne;
- Cavé, Hélène;
- Grandchamp, Bernard
Publication type:
Article
Is there an optimal strategy for real‐time continuous glucose monitoring in pediatrics? A 12‐month French multi‐center, prospective, controlled randomized trial (Start‐In!).
Published in:
Pediatric Diabetes, 2019, v. 20, n. 3, p. 304, doi. 10.1111/pedi.12820
By:
- Guilmin‐Crépon, Sophie;
- Tubiana‐Rufi, Nadia;
- Carel, Jean‐Claude;
- Dalla‐Vale, Fabienne;
- Stuckens, Chantal;
- Bony‐Trifunovic, Hélène;
- Crosnier, Hélène;
- Kurtz, François;
- Couque, Nathalie;
- Schroedt, Julien;
- Alberti, Corinne;
- Kaguelidou, Florentia;
- Le Jeannic, Anaïs;
- Durand‐Zaleski, Isabelle;
- Sulmont, Véronique;
- Salmon, Anne‐Sophie;
- Le Tallec, Claire;
- Coutant, Régis
Publication type:
Article
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Published in:
Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
By:
- Halewa, Judith;
- Marouillat, Sylviane;
- Dixneuf, Manon;
- Thépault, Rose‐Anne;
- Ung, Dévina C.;
- Chatron, Nicolas;
- Gérard, Bénédicte;
- Ghoumid, Jamal;
- Lesca, Gaëtan;
- Till, Marianne;
- Smol, Thomas;
- Couque, Nathalie;
- Ruaud, Lyse;
- Chune, Valérie;
- Grotto, Sarah;
- Verloes, Alain;
- Vuillaume, Marie‐Laure;
- Toutain, Annick;
- Raynaud, Martine;
- Laumonnier, Frédéric
Publication type:
Article
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Published in:
Genes, 2023, v. 14, n. 6, p. 1179, doi. 10.3390/genes14061179
By:
- Parra, Alejandro;
- Rabin, Rachel;
- Pappas, John;
- Pascual, Patricia;
- Cazalla, Mario;
- Arias, Pedro;
- Gallego-Zazo, Natalia;
- Santana, Alfredo;
- Arroyo, Ignacio;
- Artigas, Mercè;
- Pachajoa, Harry;
- Alanay, Yasemin;
- Akgun-Dogan, Ozlem;
- Ruaud, Lyse;
- Couque, Nathalie;
- Levy, Jonathan;
- Porras-Hurtado, Gloria Liliana;
- Santos-Simarro, Fernando;
- Ballesta-Martinez, Maria Juliana;
- Guillén-Navarro, Encarna
Publication type:
Article
Effect of Facemask in Congenital Central Hypoventilation Syndrome.
Published in:
Respiration, 2023, v. 102, n. 12, p. 991, doi. 10.1159/000535127
By:
- Dudoignon, Benjamin;
- Patout, Maxime;
- Couque, Nathalie;
- Delclaux, Christophe;
- Bokov, Plamen
Publication type:
Article

Found: 17