المؤلفون: Marie-Christine Vantyghem, C. Huckebrink, K. Mention, A. Debrabander, Claire Douillard, Dries Dobbelaere, A. Dernis, F. Maillot, C. Moreau

المصدر: Annales d'Endocrinologie. 82:252-253

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9e8335a5f2754e07d51b6fc6921df06Test
https://doi.org/10.1016/j.ando.2021.08.006Test

المؤلفون: K. Mention Mulliez

المصدر: Perfectionnement en Pédiatrie. 4:E26-E27

مصطلحات موضوعية: business.industry, Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0091a4905a524c16e28580e9a5c6b4d3Test
https://doi.org/10.1016/j.perped.2021.03.012Test

المؤلفون: Alicia Chan, Gaele Pitelet, Sarah Sidky, Dwight D. Koeberl, Thierry Billette de Villemeur, K. Mention, Floris C. Hofstede, Declan O'Rourke, Laurence Lion-François, Gajja S. Salomons, Diana Ballhausen, Jose E. Abdenur, Marie-Line Jacquemont, Maria Tassini, David Cheillan, Nathalie Dorison, Miquel Raspall-Chaure, Monique Williams, Jennifer L. Goldstein, Alice Goldenberg, Arnaud Anastasi, Sabrina Buoni, Saadet Mercimek-Andrews, Helen Mundy, Allan M. Lund, Yannay Khaikin

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Pediatrics, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D)

المصدر: European journal of paediatric neurology : EJPN, 22(3), 369-379. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders Ltd
Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, F C, Jacquemont, M-L, Koeberl, D D, Lion-Francois, L, Lund, A M, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, Billette de Villemeur, T, Williams, M, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study ', European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 369-379 . https://doi.org/10.1016/j.ejpn.2018.02.007Test

مصطلحات موضوعية: 0301 basic medicine, Male, Ornithine, medicine.medical_specialty, Movement disorders, Creatine therapy, Global developmental delay, Guanidinoacetate methyltransferase deficiency, Creatine, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Seizures, Internal medicine, medicine, Diet, Protein-Restricted, Humans, Language Development Disorders, Retrospective Studies, Movement Disorders, business.industry, Retrospective cohort study, General Medicine, medicine.disease, Seizure, Guanidinoacetate N-methyltransferase, 030104 developmental biology, Treatment Outcome, chemistry, Pediatrics, Perinatology and Child Health, Female, Guanidinoacetate N-Methyltransferase, Neurology (clinical), medicine.symptom, Arginine-restricted diet, business, 030217 neurology & neurosurgery, GAMT deficiency, Cohort study

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f01cafdcf14c1a438d510cd8b009e6Test
https://doi.org/10.1016/j.ejpn.2018.02.007Test

المؤلفون: K. Mention, L. Vanneste, G. Grzych, C. Yelnik, M. Joncquel, Marie-Christine Vantyghem, Claire Douillard

المصدر: Annales d'Endocrinologie. 82:252

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3fb6c14c584f3255d70cc022a679b8afTest
https://doi.org/10.1016/j.ando.2021.08.005Test

المؤلفون: A.F. Dessein, M. Fontaine, B.S. Andresen, N. Gregersen, M. Brivet, D. Rabier, S. Napuri-Gouel, D. Dobbelaere, K. Mention-Mulliez, A. Martin-Ponthieu, G. Briand, D.S. Millington, C. Vianey-Saban, R.J.A. Wanders, J. Vamecq

المصدر: Orphanet Journal of Rare Diseases (17501172) vol.5 (2010) nr.1 p.26

العلاقة: http://hdl.handle.net/11245/1.339826Test

الإتاحة: http://hdl.handle.net/11245/1.339826Test

المؤلفون: Roland Posset, Javier Blasco-Alonso, Daniela Karall, Frits A. Wijburg, Marie-Cécile Nassogne, L. Rubert, Monique Williams, C. De Laet, A.M. Jelsig, Aline Cano, Stephanie Grunewald, Tomas Honzik, Kimberly A. Chapman, Carlo Dionisi-Vici, E. Cortes I. Saladelafont, N. Lüsebrink, François Eyskens, Ans T. van der Ploeg, Friederike Hörster, Femke Molema, A. Wisniewska, P. de Lonlay, Stefan Kölker, E. Leao-Teles, Roshni Vara, Etienne Sokal, Brigitte Chabrol, Ivo Barić, V. Legros, Andrew P. Morris, Anil Jalan, Manuel Schiff, L. De Meirleir, A. B. Burlina, Johannes Häberle, Florian Gleich, F. Arnaudo, Persephone Augoustides-Savvopoulou, Calin Deleanu, Marshall L. Summar, K. Mention, D. Gil-Ortega, Ni-Chung Lee, Sandra Alves, Martin Lindner, Inmaculada Vives-Piñera, Annet M. Bosch, Allan M. Lund, Dimitris Rizopoulos, A. Garcia Cazorla, Luis Peña-Quintana, Diego Martinelli, Sabine Scholl-Bürgi, Paula Avram, A. Sarajlija, Wuh-Liang Hwu, Dries Dobbelaere, Matthias R. Baumgartner, Jiří Zeman, Peter Freisinger, Shirou Matsumoto, N. Thompson, Yin-Hsiu Chien, Anupam Chakrapani, Jolanta Sykut-Cegielska, M. Djordjevic, Peter Burgard

المساهمون: Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism, ARD - Amsterdam Reproduction and Development, Pediatrics, Epidemiology, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Amsterdam Gastroenterology Endocrinology Metabolism, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, E-IMD

المصدر: Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M L, Chapman, K A, Lund, A M, Rizopoulos, D, Kölker, S, Williams, M, Hörster, F, Jelsig, A M, de Lonlay, P, Wijburg, F A, Bosch, A, Freisinger, P, Posset, R, Augoustides-Savvopoulou, P, Avram, P, Deleanu, C, Baumgartner, M R, Häberle, J, Blasco-Alonso, J, Burlina, A B, Rubert, L, Cazorla, A G, Saladelafont, E C I, Dionisi-Vici, C, Martinelli, D, Dobbelaere, D, Mention, K, Grünewald, S, Chakrapani, A, Hwu, W-L, Chien, Y-H, Lee, N-C, Karall, D, Scholl-Bürgi, S, de Laet, C, Matsumoto, S, de Meirleir, L, Schiff, M, Peña-Quintana, L, Djordjevic, M, Sarajlija, A, Sykut-Cegielska, J, Wisniewska, A, Leao-Teles, E, Alves, S, Additional individual contributors from E-IMD, Wijburg, F A, Vara, R, Vives Piñera, I, Gil-Ortega, D, Morris, A, Zeman, J, Honzik, T, Chabrol, B, Arnaudo, F, Cano, A, Thompson, N, Eyskens, F, Lindner, M, Lüsebrink, N, Jalan, A, Sokal, E, Legros, V, Nassogne, M-C & Barić, I 2019, ' Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment ', Molecular Genetics and Metabolism, vol. 126, no. 4, pp. 397-405 . https://doi.org/10.1016/j.ymgme.2019.02.003Test
Molecular genetics and metabolism, 126(4), 397-405. Academic Press Inc.
Molecular Genetics and Metabolism, 126(4), 397-405. Academic Press
Molecular Genetics and Metabolism, 126(4), 397-405. Academic Press Inc.
Molecular Genetics and Metabolism, (2019)
Molecular genetics and metabolism, Vol. 126, no. 4, p. 397-405 (2019)
Molecular genetics and metabolism

مصطلحات موضوعية: 0301 basic medicine, Male, Propionic Acidemia, Arginine, Endocrinology, Diabetes and Metabolism, Methylmalonic acidemia, L-arginine, 030105 genetics & heredity, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Longitudinal Studies, Registries, Propionic acidemia, Child, Urea Cycle Disorders, Inborn, Body height, Branched-chain amino acids, Dietary and supplemental treatment, Organic acidurias, Urea cycle disorders, Ornithine transcarbamylase deficiency, Growth Disorders, Argininosuccinate lyase, Diabetes and Metabolism, Europe, Urea cycle, Child, Preschool, Female, Leucine, medicine.medical_specialty, Adolescent, Branched-chain amino acid, 03 medical and health sciences, Internal medicine, medicine, Genetics, Humans, Molecular Biology, Amino Acid Metabolism, Inborn Errors, business.industry, medicine.disease, Diet, chemistry, Human medicine, business, 030217 neurology & neurosurgery, Amino Acids, Branched-Chain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abff0ac1c9b4779026f10a3301e0557Test
https://research.vumc.nl/en/publications/f695d216-9255-447b-b563-e5265cc72281Test

المؤلفون: Y. Bernaczyk, K. Mention, Antoine Deschildre, Guillaume Pouessel, S. Ganga, S. Combes

المصدر: Revue Française d'Allergologie. 55:534-537

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, medicine, Hyperlactemia, Immunology and Allergy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7948fdda0fb4205403c429fdc7814baeTest
https://doi.org/10.1016/j.reval.2015.08.003Test

المؤلفون: Jean-Marie Cuisset, Robin Cremer, C. Minnaert, S. Joriot, Laurent Storme, S. Vandoolaeghe, A. Laffargue, D. Guimber, A. Matthews, K. Mention, Pierre Fayoux, D. Thomas, J. Le Cunff, C. Lervat

المصدر: Archives de Pédiatrie. 22:1119-1128

مصطلحات موضوعية: Withholding Treatment, Patient care team, Nursing, Clinical decision making, media_common.quotation_subject, Pediatrics, Perinatology and Child Health, MEDLINE, 16. Peace & justice, Deliberation, Psychology, 3. Good health, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f56db3cc31bfc7319b1ab8d6987b324Test
https://doi.org/10.1016/j.arcped.2015.08.004Test

المؤلفون: Carlo Dionisi-Vici, Peter Burgard, E. Bauchart, Stefan Kölker, Daniela Karall, Manuel Schiff, K. Mention, Esmeralda Rodrigues, Jiří Zeman, Javier Blasco-Alonso, Hélène Ogier de Baulny, E. Leão Teles, Allan M. Lund, Angeles Garcia-Cazorla, Jolanta Sykut-Cegielska, M. Djordjevic, Hariklea Ioannou, Sylvia Grünewald, Carlos Ortez, Frits A. Wijburg, Vassili Valayannopoulos, M.T. Cardoso, Chris Mühlhausen, Anupam Chakrapani, Wanda Gradowska, Florian Gleich, Nicholas Thompson, Dries Dobbelaere, François Eyskens, Peter Freisinger, Pascale de Lonlay, Roshni Vara, Wuh-Liang Hwu, Victoria Riches, Johannes Häberle, Elisenda Cortès-Saladelafont, Matthias R. Baumgartner, Anaïs Brassier, Diego Martinelli, Gisela Haege, María L. Couce, Brigitte Chabrol, Ivo Barić, Corinne De Laet, Luis Peña-Quintana, Anil Jalan, Matthias Zielonka, Etienne Sokal, Linda De Meirleir, Roland Posset, John H. Walter, Elaine Murphy, Martin Lindner, Jean Baptiste Arnoux, Alberto Burlina, Monique Williams

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Disease onset, business.industry, MathematicsofComputing_GENERAL, 030230 surgery, Outcome (game theory), 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Urea cycle, Genetics, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Medicine, 030211 gastroenterology & hepatology, Ammonium, Inherited metabolic disease, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba270118f19ab99fd6ac67c6eaf4a62Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13449Test

المؤلفون: Dries Dobbelaere, Joseph Vamecq, K. Mention-Mulliez, F. Leclerc

المصدر: Archives de Pédiatrie. 22:292-295

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::97f851aebaeeec52a1d2e14a029d29fbTest
https://doi.org/10.1016/j.arcped.2014.11.010Test