Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?

por Vamecq, Joseph, Mention-Mulliez, Karine, Leclerc, Francis, Dobbelaere, Dries
Publicado 2015

Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane(®) (Sodium Phenylbutyrate) Taste-Masked Granules

por Kibleur, Yves, Dobbelaere, Dries, Barth, Magalie, Brassier, Anaïs, Guffon, Nathalie
Publicado 2014

Endocrine manifestations related to inherited metabolic diseases in adults

por Vantyghem, Marie-Christine, Dobbelaere, Dries, Mention, Karine, Wemeau, Jean-Louis, Saudubray, Jean-Marie, Douillard, Claire
Publicado 2012

Hypoglycaemia related to inherited metabolic diseases in adults

por Douillard, Claire, Mention, Karine, Dobbelaere, Dries, Wemeau, Jean-Louis, Saudubray, Jean-Marie, Vantyghem, Marie-Christine
Publicado 2012

Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series

por Medjkane, François, Bohet, Marine, Ister, Marielle, Cohen, David, Parenti, Aesa, Janati, Majda, Mention, Karine, Dobbelaere, Dries, Jardri, Renaud
Publicado 2021

First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study

por Germain, Nicolas, Dessein, Anne-Frédérique, Vienne, Jean-Claude, Dobbelaere, Dries, Mention, Karine, Joncquel, Marie, Dekiouk, Salim, Laine, William, Kluza, Jérome, Marchetti, Philippe
Publicado 2019

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

por Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, Blom, Henk J.
Publicado 2016

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

por 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
Publicado 2016

From Phenomenology to Neurophysiological Understanding of Hallucinations in Children and Adolescents

por Jardri, Renaud, Bartels-Velthuis, Agna A., Debbané, Martin, Jenner, Jack A., Kelleher, Ian, Dauvilliers, Yves, Plazzi, Giuseppe, Demeulemeester, Morgane, David, Christopher N., Rapoport, Judith, Dobbelaere, Dries, Escher, Sandra, Fernyhough, Charles
Publicado 2014

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

por Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Publicado 2012

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

por Dessein, Anne-Frédérique, Hebbar, Eléonore, Vamecq, Joseph, Lebredonchel, Elodie, Devos, Aurore, Ghoumid, Jamal, Mention, Karine, Dobbelaere, Dries, Chevalier-Curt, Marie Joncquel, Fontaine, Monique, Defoort, Sabine, Smirnov, Vassily, Douillard, Claire, Dhaenens, Claire-Marie
Publicado 2022

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,...

por 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
Publicado 2017

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

por Posset, Roland, Garbade, Sven F., Gleich, Florian, Gropman, Andrea L., de Lonlay, Pascale, Hoffmann, Georg F., Garcia-Cazorla, Angeles, Nagamani, Sandesh C. S., Baumgartner, Matthias R., Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias
Publicado 2020

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

por 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 JA, Vamecq, Joseph
Publicado 2010

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

por Nguyen, Yann, Stirnemann, Jérôme, Lautredoux, Florent, Cador, Bérengère, Bengherbia, Monia, Yousfi, Karima, Hamroun, Dalil, Astudillo, Leonardo, Billette de Villemeur, Thierry, Brassier, Anaïs, Camou, Fabrice, Dalbies, Florence, Dobbelaere, Dries, Gaches, Francis, Leguy-Seguin, Vanessa, Masseau, Agathe, Pers, Yves-Marie, Pichard, Samia, Serratrice, Christine, Berger, Marc G., Fantin, Bruno, Belmatoug, Nadia
Publicado 2020

Betaine anhydrous in homocystinuria: results from the RoCH registry

por Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L., Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François
Publicado 2019

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

por Stirnemann, Jérôme, Vigan, Marie, Hamroun, Dalil, Heraoui, Djazia, Rossi-Semerano, Linda, Berger, Marc G, Rose, Christian, Camou, Fabrice, de Roux-Serratrice, Christine, Grosbois, Bernard, Kaminsky, Pierre, Robert, Alain, Caillaud, Catherine, Froissart, Roselyne, Levade, Thierry, Masseau, Agathe, Mignot, Cyril, Sedel, Frédéric, Dobbelaere, Dries, Vanier, Marie T, Valayanopoulos, Vassili, Fain, Olivier, Fantin, Bruno, de Villemeur, Thierry Billette, Mentré, France, Belmatoug, Nadia
Publicado 2012

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

por Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Marike C., Lachmann, Robin, Langendonk, Janneke G., Langeveld, Mirjam, Linthorst, Gabor, Morava, Eva, Poll-The, Bwee Tien, Rahman, Shamima, Rubio-Gozalbo, M. Estela, Spiekerkoetter, Ute, Treacy, Eileen, Wanders, Ronald, Zschocke, Johannes, Hagendijk, Rob
Publicado 2016

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

por Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin‐Hsiu, Cortès‐Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas
Publicado 2022

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

por Cheillan, David, Curt, Marie Joncquel-Chevalier, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Publicado 2012