المؤلفون: Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1041-1057

المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1059-1074

المؤلفون: Mazur, Artur, Jarochowicz, Sabina, Oltarzewski, Mariusz, Sykut-Cegielska, Jolanta, Gradowska, Wanda, Januszek-Trzciakowska, Aleksandra, O'Malley, Grace, Kwolek, Andrzej

المصدر: Journal of Applied Research in Intellectual Disabilities. Sep 2011 24(5):482-488.

Peer Reviewed: Y

Page Count: 7

Descriptors: Mental Retardation, Seizures, Quality of Life, Patients, Nursing Homes, Health Facilities, Foreign Countries, Chemistry, Investigations, Adults, Symptoms (Individual Disorders), Data Analysis

مصطلحات جغرافية: Poland

المؤلفون: Sykut-Cegielska, Jolanta, Gradowska, Wanda, Piekutowska-Abramczuk, Dorota, Andresen, Brage S., Olsen, Rikke K. J., Ołtarzewski, Mariusz, Pronicki, Maciej, Pajdowska, Magdalena, Bogdańska, Anna, Jabłońska, Ewa, Radomyska, Barbara, Kuśmierska, Katarzyna, Krajewska-Walasek, Małgorzata, Gregersen, Niels, Pronicka, Ewa

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. February 2011 34(1):185-195

Alternate Title: Uric acid determination as a screening method for some inborn errors of purine metabolism (English)

المؤلفون: Jurecka, Agnieszka, Tylki-Szymańska, Anna, Gradowska, Wanda

المصدر: In Pediatria Polska 2008 83(5):490-495

المؤلفون: Jurecka, Agnieszka, Stiburkova, Blanka, Krijt, Jakub, Gradowska, Wanda, Tylki-Szymanska, Anna

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2010 33(3):21-24

المؤلفون: Tylki-Szymanska, Anna, Gradowska, Wanda, Sommer, Anke, Heer, Angelina, Walter, Melanie, Reinhard, Christina, Omran, Heymut, Sass, Jörn Oliver, Jurecka, Agnieszka

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2010 33(3):211-214

المؤلفون: Piekutowska-Abramczuk, Dorota, Olsen, Rikke K. J., Wierzba, Jolanta, Popowska, Ewa, Jurkiewicz, Dorota, Ciara, Elżbieta, Ołtarzewski, Mariusz, Gradowska, Wanda, Sykut-Cegielska, Jolanta, Krajewska-Walasek, Małgorzata, Andresen, Brage S., Gregersen, Niels, Pronicka, Ewa

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2010 33(3):373-377

المؤلفون: Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1155-1156

المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Cazorla, Angeles Garcia

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1157-1158