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What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Published in:
2008
By:
- Valayannopoulos, Vassili;
- Romano, Stéphane;
- Mention, Karine;
- Vassault, Anne;
- Rabier, Daniel;
- Polak, Michel;
- Robert, Jean-Jacques;
- Keyzer, Yves;
- Lonlay, Pascale;
- Romano, Stéphane;
- de Keyzer, Yves;
- de Lonlay, Pascale
Publication type:
journal article
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36277-7
By:
- Van Haute, Lindsey;
- O'Connor, Emily;
- Díaz-Maldonado, Héctor;
- Munro, Benjamin;
- Polavarapu, Kiran;
- Hock, Daniella H.;
- Arunachal, Gautham;
- Athanasiou-Fragkouli, Alkyoni;
- Bardhan, Mainak;
- Barth, Magalie;
- Bonneau, Dominique;
- Brunetti-Pierri, Nicola;
- Cappuccio, Gerarda;
- Caruana, Nikeisha J.;
- Dominik, Natalia;
- Goel, Himanshu;
- Helman, Guy;
- Houlden, Henry;
- Lenaers, Guy;
- Mention, Karine
Publication type:
Article
Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?
Published in:
Pharmaceuticals (14248247), 2015, v. 8, n. 4, p. 664, doi. 10.3390/ph8040664
By:
- Vamecq, Joseph;
- Mention-Mulliez, Karine;
- Leclerc, Francis;
- Dobbelaere, Dries
Publication type:
Article
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
Published in:
Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0513-0
By:
- Husson, Marie-Caroline;
- Schiff, Manuel;
- Fouilhoux, Alain;
- Cano, Aline;
- Dobbelaere, Dries;
- Brassier, Anais;
- Mention, Karine;
- Arnoux, Jean-Baptiste;
- Feillet, François;
- Chabrol, Brigitte;
- Guffon, Nathalie;
- Elie, Caroline;
- de Lonlay, Pascale
Publication type:
Article
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Published in:
2015
By:
- Jeannesson-Thivisol, Elise;
- Feillet, François;
- Chéry, Céline;
- Perrin, Pascal;
- Battaglia-Hsu, Shyue-Fang;
- Herbeth, Bernard;
- Cano, Aline;
- Barth, Magalie;
- Fouilhoux, Alain;
- Mention, Karine;
- Labarthe, François;
- Arnoux, Jean-Baptiste;
- Maillot, François;
- Lenaerts, Catherine;
- Dumesnil, Cécile;
- Wagner, Kathy;
- Terral, Daniel;
- Broué, Pierre;
- de Parscau, Loïc;
- Gay, Claire
Publication type:
journal article
Endocrine manifestations related to inherited metabolic diseases in adults.
Published in:
2012
By:
- Vantyghem, Marie-Christine;
- Dobbelaere, Dries;
- Mention, Karine;
- Wemeau, Jean-Louis;
- Saudubray, Jean-Marie;
- Douillard, Claire
Publication type:
journal article
Hypoglycaemia related to inherited metabolic diseases in adults.
Published in:
2012
By:
- Douillard, Claire;
- Mention, Karine;
- Dobbelaere, Dries;
- Wemeau, Jean-Louis;
- Saudubray, Jean-Marie;
- Vantyghem, Marie-Christine
Publication type:
journal article
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 96, doi. 10.1186/1750-1172-7-96
By:
- Cheillan, David;
- Joncquel-Chevalier Curt, Marie;
- Briand, Gilbert;
- Salomons, Gajja S.;
- Mention-Mulliez, Karine;
- Dobbelaere, Dries;
- Cuisset, Jean-Marie;
- Lion-Fran‡ois, Laurence;
- Des Portes, Vincent;
- Chabli, Allel;
- Valayannopoulos, Vassili;
- Benoist, Jean-Fran‡ois;
- Pinard, Jean-Marc;
- Simard, Gilles;
- Douay, Olivier;
- Deiva, Kumaran;
- Afenjar, Alexandra;
- H‚ron, Delphine;
- Rivier, Fran‡ois;
- Chabrol, Brigitte
Publication type:
Article
Hypoglycaemia related to inherited metabolic diseases in adults.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 26, doi. 10.1186/1750-1172-7-26
By:
- Douillard, Claire;
- Mention, Karine;
- Dobbelaere, Dries;
- Wemeau, Jean-Louis;
- Saudubray, Jean-Marie;
- Vantyghem, Marie-Christine
Publication type:
Article
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Published in:
2010
By:
- Dessein, Anne-Frédérique;
- Fontaine, Monique;
- Andresen, Brage S.;
- Gregersen, Niels;
- Brivet, Michèle;
- Rabier, Daniel;
- Napuri-Gouel, Silvia;
- Dobbelaere, Dries;
- Mention-Mulliez, Karine;
- Martin-Ponthieu, Annie;
- Briand, Gilbert;
- Millington, David S.;
- Vianey-Saban, Christine;
- Wanders, Ronald J. A.;
- Vamecq, Joseph
Publication type:
Case Study
Le dépistage néonatal en France : actualités et perspectives.
Published in:
Annales de Biologie Clinique, 2024, v. 82, n. 1, p. 24, doi. 10.1684/abc.2024.1869
By:
- Gernez, Emeline;
- Roland, Estelle;
- Dhaenens, Claire-Marie;
- Renom, Gilles;
- Mention, Karine
Publication type:
Article
Migration of percutaneous endoscopic gastrostomy tube in children.
Published in:
2002
By:
- Uhlen, Stéphanie;
- Mention, Karine;
- Michaud, Laurent
Publication type:
Case Study
Characteristics and prevalence of Helicobacter heilmannii infection in children undergoing upper gastrointestinal endoscopy.
Published in:
1999
By:
- Mention, Karine;
- Michaud, Laurent;
- Guimber, Dominique;
- Martin De Lasalle, Elisabeth;
- Vincent, Pascal;
- Turck, Dominique;
- Gottrand, Frédéric;
- Mention, K;
- Michaud, L;
- Guimber, D;
- Martin De Lasalle, E;
- Vincent, P;
- Turck, D;
- Gottrand, F
Publication type:
journal article
Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 110, doi. 10.1002/jmd2.12207
By:
- de Lonlay, Pascale;
- Posset, Roland;
- Mütze, Ulrike;
- Mention, Karine;
- Lamireau, Delphine;
- Schiff, Manuel;
- Servais, Aude;
- Arnoux, Jean Baptiste;
- Brassier, Anaïs;
- Dao, Myriam;
- Douillard, Claire;
- Ottolenghi, Chris;
- Pontoizeau, Clément;
- Miotto, Federica;
- Le Mouhaër, Jeannie
Publication type:
Article
Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 29, doi. 10.1002/jmd2.12133
By:
- Medjkane, François;
- Bohet, Marine;
- Ister, Marielle;
- Cohen, David;
- Parenti, Aesa;
- Janati, Majda;
- Mention, Karine;
- Dobbelaere, Dries;
- Jardri, Renaud
Publication type:
Article
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
Published in:
2022
By:
- Alili, Jean-Meidi;
- Berleur, Marie-Pierre;
- Husson, Marie-Caroline;
- Mention, Karine;
- Schiff, Manuel;
- Arnoux, Jean-Baptiste;
- Brassier, Anaïs;
- Guemman, Anne-Sophie;
- Grisel, Coraline;
- Dubois, Sandrine;
- Abi-Wardé, Marie-Thérèse;
- Broissand, Christine;
- Servais, Aude;
- Dao, Myriam;
- de Lonlay, Pascale
Publication type:
journal article
Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).
Published in:
Acta Neurologica Belgica, 2021, v. 121, n. 6, p. 1669, doi. 10.1007/s13760-020-01467-3
By:
- Minet, Perrine;
- Sarret, Catherine;
- Miret, Ania;
- Mention, Karine;
- Benoist, Jean François;
- Remerand, Ganaelle
Publication type:
Article
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 649, doi. 10.1002/jimd.12592
By:
- Tuchmann‐Durand, Caroline;
- Roda, Célina;
- Renard, Perrine;
- Mortamet, Guillaume;
- Bérat, Claire‐Marine;
- Altenburger, Lucile;
- de Larauz, Marie Hug;
- Thevenet, Eloise;
- Cottart, Charles‐Henry;
- Moulin, Florence;
- Bouchereau, Juliette;
- Brassier, Anais;
- Arnoux, Jean‐Baptiste;
- Schiff, Manuel;
- Bednarek, Nathalie;
- Lamireau, Delphine;
- Garros, Alexa;
- Mention, Karine;
- Cano, Aline;
- Finger, Lionel
Publication type:
Article
Postauthorization safety study of betaine anhydrous.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499
By:
- Mütze, Ulrike;
- Gleich, Florian;
- Garbade, Sven F.;
- Plisson, Céline;
- Aldámiz‐Echevarría, Luis;
- Arrieta, Francisco;
- Ballhausen, Diana;
- Zielonka, Matthias;
- Petković Ramadža, Danijela;
- Baumgartner, Matthias R.;
- Cano, Aline;
- García Jiménez, María Concepción;
- Dionisi‐Vici, Carlo;
- Ješina, Pavel;
- Blom, Henk J.;
- Couce, Maria Luz;
- Meavilla Olivas, Silvia;
- Mention, Karine;
- Mochel, Fanny;
- Morris, Andrew A. M.
Publication type:
Article
Long term outcome of MPI‐CDG patients on D‐mannose therapy.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1360, doi. 10.1002/jimd.12289
By:
- Girard, Muriel;
- Douillard, Claire;
- Debray, Dominique;
- Lacaille, Florence;
- Schiff, Manuel;
- Vuillaumier‐Barrot, Sandrine;
- Dupré, Thierry;
- Fabre, Monique;
- Damaj, Lena;
- Kuster, Alice;
- Torre, Stéphanie;
- Mention, Karine;
- McLin, Valérie;
- Dobbelaere, Dries;
- Borgel, Delphine;
- Bauchard, Eric;
- Seta, Nathalie;
- Bruneel, Arnaud;
- De Lonlay, Pascale
Publication type:
Article
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
By:
- Paquay, Stéphanie;
- Bourillon, Agnès;
- Pichard, Samia;
- Benoist, Jean-François;
- Lonlay, Pascale;
- Dobbelaere, Dries;
- Fouilhoux, Alain;
- Guffon, Nathalie;
- Rouvet, Isabelle;
- Labarthe, François;
- Mention, Karine;
- Touati, Guy;
- Valayannopoulos, Vassili;
- Ogier de Baulny, Hélène;
- Elmaleh-Bergès, Monique;
- Acquaviva-Bourdain, Cécile;
- Vianey-Saban, Christine;
- Schiff, Manuel
Publication type:
Article
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 993, doi. 10.1007/s10545-012-9491-0
By:
- Teissier, Raphaël;
- Nowak, Emmanuel;
- Assoun, Murielle;
- Mention, Karine;
- Cano, Aline;
- Fouilhoux, Alain;
- Feillet, François;
- Ogier, Hélène;
- Oger, Emmanuel;
- Parscau, Loïc
Publication type:
Article
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 823, doi. 10.1007/s10545-011-9429-y
By:
- Schiff, Manuel;
- Broue, Pierre;
- Chabrol, Brigitte;
- Laet, Corinne;
- Habes, Dalila;
- Mention, Karine;
- Sarles, Jacques;
- Spraul, Anne;
- Valayannopoulos, Vassili;
- Ogier de Baulny, Hélène
Publication type:
Article
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study.
Published in:
European Journal of Neurology, 2023, v. 30, n. 9, p. 2828, doi. 10.1111/ene.15894
By:
- Tardieu, Marine;
- Cudejko, Céline;
- Cano, Aline;
- Hoebeke, Célia;
- Bernoux, Delphine;
- Goetz, Violette;
- Pichard, Samia;
- Brassier, Anaïs;
- Schiff, Manuel;
- Feillet, François;
- Rollier, Paul;
- Mention, Karine;
- Dobbelaere, Dries;
- Fouilhoux, Alain;
- Espil‐Taris, Caroline;
- Eyer, Didier;
- Huet, Frédéric;
- Walther‐Louvier, Ulrike;
- Barth, Magalie;
- Chevret, Laurent
Publication type:
Article
Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience.
Published in:
Pediatric Blood & Cancer, 2024, v. 71, n. 10, p. 1, doi. 10.1002/pbc.31174
By:
- Freppel, Malo;
- Mention, Karine;
- Renom, Gilles;
- Lambilliotte, Anne;
- Barbati, Mélissa
Publication type:
Article
Gastropathy and Gastritis in Children With Portal Hypertension.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2007, v. 45, n. 1, p. 137, doi. 10.1097/MPG.0b013e318049cbe2
By:
- El-Rifai, Nahida;
- Mention, Karine;
- Guimber, Dominique;
- Michaud, Laurent;
- Boman, Francoise;
- Turck, Dominique;
- Gottrand, Frédéric
Publication type:
Article
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Published in:
Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051169
By:
- Almes, Marion;
- Spraul, Anne;
- Ruiz, Mathias;
- Girard, Muriel;
- Roquelaure, Bertrand;
- Laborde, Nolwenn;
- Gottrand, Fréderic;
- Turquet, Anne;
- Lamireau, Thierry;
- Dabadie, Alain;
- Bonneton, Marjorie;
- Thebaut, Alice;
- Rohmer, Babara;
- Lacaille, Florence;
- Broué, Pierre;
- Fabre, Alexandre;
- Mention-Mulliez, Karine;
- Bouligand, Jérôme;
- Jacquemin, Emmanuel;
- Gonzales, Emmanuel
Publication type:
Article
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352006
By:
- Mansour-Hendili, Lamisse;
- Gitiaux, Cyril;
- Harion, Madeleine;
- Latouche, Céline;
- Heron, Bénédicte;
- Stojkovic, Tanya;
- Rama, Mélanie;
- Smol, Thomas;
- Jourdain, Anne Sophie;
- Mention, Karine;
- Nadjar, Yann;
- Schiff, Manuel;
- Lemale, Julie;
- Ghoumid, Jamal;
- Gottrand, Frédéric;
- Talbotec, Cécile;
- Rötig, Agnès;
- Funalot, Benoît;
- Desguerre, Isabelle
Publication type:
Article
Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients.
Published in:
Movement Disorders, 2008, v. 23, n. 16, p. 2392, doi. 10.1002/mds.22313
By:
- Gitiaux, Cyril;
- Roze, Emmanuel;
- Kinugawa, Kiyoka;
- Flamand-Rouvière, Constance;
- Boddaert, Nathalie;
- Apartis, Emmanuelle;
- Valayannopoulos, Vassili;
- Touati, Guy;
- Motte, Jacques;
- Devos, David;
- Mention, Karine;
- Dobbelaere, Dries;
- Rodriguez, Diana;
- Roubertie, Agathe;
- Chabrol, Brigitte;
- Feillet, François;
- Vidailhet, Marie;
- Bahi-Buisson, Nadia
Publication type:
Article
Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label, controlled study.
Published in:
2017
By:
- Duburcq, Thibault;
- Durand, Arthur;
- Dessein, Anne-Frédérique;
- Vamecq, Joseph;
- Vienne, Jean-Claude;
- Dobbelaere, Dries;
- Mention, Karine;
- Douillard, Claire;
- Maboudou, Patrice;
- Gmyr, Valery;
- Pattou, François;
- Jourdain, Mercé;
- Tamion, Fabienne;
- Poissy, Julien;
- Mathieu, Daniel;
- Favory, Raphaël
Publication type:
journal article

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