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

Autor: 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

Publikováno v: 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.2019.02.003
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

Background and aim Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abff0ac1c9b4779026f10a3301e0557
https://research.vumc.nl/en/publications/f695d216-9255-447b-b563-e5265cc72281

EXPERIENCIA EN NUESTRO CENTRO SOBRE LA INGESTA ACCIDENTAL DE PILA DE BOTÓN EN EDAD PEDIATRICA

Autor: J. Egea Valenzuela, D Gil Ortega, M Muñoz Tornero, J Alvarez Higueras Francisco, G Antón Ródenas, F. Alberca de las Parras, A Garcia Lax, F Carballo Alvarez Luis, M Navalon Rubio, I Martinez Castaño

Publikováno v: Endoscopy. 45

Introduccion: La ingesta accidental de pilas de boton puede tener consecuencias letales, maxime si quedan ubicadas en esofago, donde el dano se puede extender a traquea o a aorta. Objetivo: Comunicar los casos de ingesta de pila de boton en los pacie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0acd30d94e266b0a263e6b032e3ab6fb
https://doi.org/10.1055/s-0033-1354627

Encefalitis límbica paraneoplásica y cáncer de pulmón

Autor: E. Hernández Pardo, G. Gutiérrez Lara, M. Gil Ortega, D. Gil Ortega, I. Gil Ortega, J. Quesada Córcoles, J. L. Fernández Reyes

Publikováno v: Anales de Medicina Interna v.21 n.3 2004
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname

La encefalitis límbica paraneoplásica (ELP) es una entidad caracterizada por severos déficits cognitivos y crisis convulsivas. Suele asociarse a carcinoma de células pequeñas de pulmón. El diagnóstico de ELP es difícil, ya que los marcadores

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c8c3f0fb449a699ca39bd209eb008b
https://doi.org/10.4321/s0212-71992004000300007

P-087: Adalimumab as first-line anti-TNF treatment in pediatric Crohn’s disease

Autor: J. Martín-de-Carpi, V.M. Navas-López, M. Navalon-Rubio, E. Llerena-Santa-Cruz, D. Gil-Ortega, V. Varea-Calderon, C. Sierra-Salinas

Publikováno v: Journal of Crohn's and Colitis. 8:S427

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4533fe27126f7177793dfb04150ca14e
https://doi.org/10.1016/s1873-9946(14)50115-8

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