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A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.
Published in:
European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 520, doi. 10.1007/s00431-003-1198-7
By:
- Walter-Nicolet, Elisabeth;
- Rakza, Thameur;
- Storme, Laurent;
- Vaillant, Catherine;
- Magnenant, Eric;
- Cremer, Robin;
- Thumerelle, Caroline;
- Dobbelaere, Dries
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
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Published in:
2016
By:
- 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;
- Bwee Tien Poll-The;
- Rahman, Shamima;
- Rubio-Gozalbo, M. Estela;
- Spiekerkoetter, Ute
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
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Published in:
2012
By:
- 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
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
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 77, doi. 10.1186/1750-1172-7-77
By:
- Stirnemann, J‚r“me;
- 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, Fr‚d‚ric;
- Dobbelaere, Dries;
- Vanier, Marie T.
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
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 36, doi. 10.1186/1750-1172-7-36
By:
- H�ron, B�n�dicte;
- Valayannopoulos, Vassili;
- Baruteau, Julien;
- Chabrol, Brigitte;
- Ogier, H�l�ne;
- Latour, Philippe;
- Dobbelaere, Dries;
- Eyer, Didier;
- Labarthe, Fran�ois;
- Maurey, H�l�ne;
- Cuisset, Jean-Marie;
- de Villemeur, Thierry Billette;
- Sedel, Fr�d�ric;
- Vanier, Marie T.
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
From Phenomenology to Neurophysiological Understanding of Hallucinations in Children and Adolescents.
Published in:
2014
By:
- 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
Publication type:
Journal Article
From Phenomenology to Neurophysiological Understanding of Hallucinations in Children and Adolescents.
Published in:
Schizophrenia Bulletin, 2014, v. 40, n. Suppl_4, p. S221, doi. 10.1093/schbul/sbu029
By:
- 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
Publication type:
Article
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1247, doi. 10.3390/ijms21041247
By:
- 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.
Publication type:
Article
Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis.
Published in:
Cerebellum, 2012, v. 11, n. 1, p. 289, doi. 10.1007/s12311-011-0310-1
By:
- Degardin, Adrian;
- Dobbelaere, Dries;
- Vuillaume, Isabelle;
- Defoort-Dhellemmes, Sabine;
- Hurtevent, Jean-François;
- Sablonnière, Bernard;
- Destée, Alain;
- Defebvre, Luc;
- Devos, David
Publication type:
Article
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Published in:
2022
By:
- Seker Yilmaz, Berna;
- Baruteau, Julien;
- Arslan, Nur;
- Aydin, Halil Ibrahim;
- Barth, Magalie;
- Bozaci, Ayse Ergul;
- Brassier, Anais;
- Canda, Ebru;
- Cano, Aline;
- Chronopoulou, Efstathia;
- Connolly, Grainne M.;
- Damaj, Lena;
- Dawson, Charlotte;
- Dobbelaere, Dries;
- Douillard, Claire;
- Eminoglu, Fatma Tuba;
- Erdol, Sahin;
- Ersoy, Melike;
- Fang, Sherry;
- Feillet, François
Publication type:
Case Study
A case of pink urine associated with abdominal pain crisis.
Published in:
Annales de Biologie Clinique, 2022, v. 80, n. 4, p. 389, doi. 10.1684/abc.2022.1743
By:
- Gernez, Emeline;
- Kim, Isabelle;
- Douillard, Claire;
- Dobbelaere, Dries;
- Grzych, Guillaume
Publication type:
Article
Marqueurs biologiques et impact métabolique de la consommation chronique de protoxyde d'azote.
Published in:
Annales de Biologie Clinique, 2022, v. 80, n. 3, p. 209, doi. 10.1684/abc.2022.1729
By:
- Grzych, Guillaume;
- Deheul, Sylvie;
- Davion, Jean-Baptiste;
- Lemonnier, Fanny;
- Dobbelaere, Dries;
- Carton, Louise;
- Kim, Isabelle;
- Guichard, Jean Claude;
- Girot, Marie;
- Humbert, Linda;
- Joly, Audrey;
- Douillard, Claire;
- Tard, Céline
Publication type:
Article
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Published in:
2019
By:
- Valayannopoulos, Vassili;
- Dalmau, Jaime;
- Peña-Quintana, Luis;
- Rigalleau, Vincent;
- Touati, Guy;
- Aldamiz-Echevarria, Luis;
- Cathebras, Pascal;
- Gay, Claire;
- Eyer, Didier;
- Brunet, Dominique;
- Damaj, Léna;
- Dobbelaere, Dries;
- Hiéronimus, Sylvie;
- Levrat, Virginie;
- Maillot, François;
- Schiff, Manuel;
- Guffon, Nathalie;
- Nadjar, Yann;
- García-Cazorla, Angels;
- Martinez-Pardo Casanova, Mercedes
Publication type:
journal article
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study.
Published in:
2001
By:
- Viola, Sheila;
- Benlian, Pascale;
- Morali, Alain;
- Dobbelaere, Dries;
- Lacaille, Florence;
- Rieu, Daniel;
- Ginies, Jean Louis;
- Maurage, Chantal;
- Meyer, Martine;
- Lachaux, Alain;
- Larchet, Michel;
- Lenearts, Catherine;
- Goulet, Olivier;
- Sarles, Jacques;
- Mouterde, Olivier;
- Girardet, Jean Philippe;
- Viola, S;
- Benlian, P;
- Morali, A;
- Dobbelaere, D
Publication type:
journal 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
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.
Published in:
Journal of Neurology, 2023, v. 270, n. 4, p. 2237, doi. 10.1007/s00415-023-11570-z
By:
- Grzych, Guillaume;
- Deheul, Sylvie;
- Gernez, Emeline;
- Davion, Jean-Baptiste;
- Dobbelaere, Dries;
- Carton, Louise;
- Kim, Isabelle;
- Guichard, Jean Claude;
- Girot, Marie;
- Humbert, Linda;
- Bennis, Anas;
- Joncquel, Marie;
- Chieux, Vincent;
- Joly, Audrey;
- Nasserdine, Phénicia;
- Trillot, Nathalie;
- Douillard, Claire;
- Pigny, Pascal;
- Tard, Céline
Publication type:
Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 482, doi. 10.1002/jimd.12566
By:
- Boy, Nikolas;
- Mühlhausen, Chris;
- Maier, Esther M.;
- Ballhausen, Diana;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Burgard, Peter;
- Chapman, Kimberly A.;
- Dobbelaere, Dries;
- Heringer‐Seifert, Jana;
- Fleissner, Sandra;
- Grohmann‐Held, Karina;
- Hahn, Gabriele;
- Harting, Inga;
- Hoffmann, Georg F.;
- Jochum, Frank;
- Karall, Daniela;
- Konstantopoulous, Vassiliki;
- Krawinkel, Michael B.;
- Lindner, Martin
Publication type:
Article
Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 220, doi. 10.1002/jimd.12572
By:
- 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
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
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 93, doi. 10.1002/jimd.12031
By:
- Posset, Roland;
- Garbade, Sven F.;
- Boy, Nikolas;
- Burlina, Alberto B.;
- Dionisi‐Vici, Carlo;
- Dobbelaere, Dries;
- Garcia‐Cazorla, Angeles;
- de Lonlay, Pascale;
- Teles, Elisa Leão;
- Vara, Roshni;
- Mew, Nicholas Ah.;
- Batshaw, Mark L.;
- Baumgartner, Matthias R.;
- McCandless, Shawn;
- Seminara, Jennifer;
- Summar, Marshall;
- Hoffmann, Georg F.;
- Kölker, Stefan;
- Burgard, Peter;
- Bloxam, Sondra
Publication type:
Article
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
By:
- Posset, Roland;
- Garcia-Cazorla, Angeles;
- Valayannopoulos, Vassili;
- Leão Teles, Elisa;
- Dionisi-Vici, Carlo;
- Brassier, Anaïs;
- Burlina, Alberto B.;
- Burgard, Peter;
- Cortès-Saladelafont, Elisenda;
- Dobbelaere, Dries;
- Couce, Maria L.;
- Sykut-Cegielska, Jolanta;
- Häberle, Johannes;
- Lund, Allan M.;
- Chakrapani, Anupam;
- Schiff, Manuel;
- Walter, John H.;
- Zeman, Jiri;
- Vara, Roshni;
- Kölker, Stefan
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
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 5, doi. 10.1007/s10545-016-9972-7
By:
- Barić, Ivo;
- Staufner, Christian;
- Augoustides-Savvopoulou, Persephone;
- Chien, Yin-Hsiu;
- Dobbelaere, Dries;
- Grünert, Sarah;
- Opladen, Thomas;
- Petković Ramadža, Danijela;
- Rakić, Bojana;
- Wedell, Anna;
- Blom, Henk
Publication type:
Article
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
By:
- Posset, Roland;
- Garcia-Cazorla, Angeles;
- Valayannopoulos, Vassili;
- Teles, Elisa;
- Dionisi-Vici, Carlo;
- Brassier, Anaïs;
- Burlina, Alberto;
- Burgard, Peter;
- Cortès-Saladelafont, Elisenda;
- Dobbelaere, Dries;
- Couce, Maria;
- Sykut-Cegielska, Jolanta;
- Häberle, Johannes;
- Lund, Allan;
- Chakrapani, Anupam;
- Schiff, Manuel;
- Walter, John;
- Zeman, Jiri;
- Vara, Roshni;
- Kölker, Stefan
Publication type:
Article
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 273, doi. 10.1007/s10545-015-9904-y
By:
- Staufner, Christian;
- Lindner, Martin;
- Dionisi-Vici, Carlo;
- Freisinger, Peter;
- Dobbelaere, Dries;
- Douillard, Claire;
- Makhseed, Nawal;
- Straub, Beate;
- Kahrizi, Kimia;
- Ballhausen, Diana;
- Marca, Giancarlo;
- Kölker, Stefan;
- Haas, Dorothea;
- Hoffmann, Georg;
- Grünert, Sarah;
- Blom, Henk
Publication type:
Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
By:
- Huemer, Martina;
- Mulder-Bleile, Regina;
- Burda, Patricie;
- Froese, D.;
- Suormala, Terttu;
- Zeev, Bruria;
- Chinnery, Patrick;
- Dionisi-Vici, Carlo;
- Dobbelaere, Dries;
- Gökcay, Gülden;
- Demirkol, Mübeccel;
- Häberle, Johannes;
- Lossos, Alexander;
- Mengel, Eugen;
- Morris, Andrew;
- Niezen-Koning, Klary;
- Plecko, Barbara;
- Parini, Rossella;
- Rokicki, Dariusz;
- Schiff, Manuel
Publication type:
Article
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67496-3
By:
- 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;
- Urea Cycle Disorders Consortium (UCDC);
- Ah Mew, Nicholas;
- Berry, Susan A.;
- McCandless, Shawn E.;
- Coughlin, Curtis;
- Enns, Gregory
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
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
Published in:
Acta Paediatrica, 2008, v. 97, n. 10, p. 1420, doi. 10.1111/j.1651-2227.2008.00952.x
By:
- Summar, Marshall L;
- Dobbelaere, Dries;
- Brusilow, Saul;
- Lee, Brendan
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
Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane (Sodium Phenylbutyrate) Taste-Masked Granules.
Published in:
Pediatric Drugs, 2014, v. 16, n. 5, p. 407, doi. 10.1007/s40272-014-0081-5
By:
- Kibleur, Yves;
- Dobbelaere, Dries;
- Barth, Magalie;
- Brassier, Anaïs;
- Guffon, Nathalie
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

Found: 39