Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Patricia Borde"'
Autor:
Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L. I. vanGassen, L. Bert van denHeuvel, Linda De Meirleir
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
Abstract Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X‐linked disorders. Parenteral hydroxocobalamin (P‐OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early t
Externí odkaz:
https://doaj.org/article/4a6dd49a31ed48feb1180e64c196c0f3
Autor:
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://doaj.org/article/b2da148c817c463e8d75115a3ccc2d88
Autor:
Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba
Publikováno v:
Neuromuscular Disorders. 31:574-582
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have bee
Autor:
Clément Kebbabi, France Debaugnies, Isabelle Genuit, Frank Goetzinger, Justine Gofinet, Patricia Borde
Publikováno v:
Toxicologie Analytique et Clinique. 34:S51-S52
Autor:
Vincent Schlesser, Christine Geron, Ronit Chafai, L Bert van den Heuvel, Hilde Laeremans, Emmanuel Scalais, Patricia Borde, Elise Osterheld, Koen L I van Gassen, Linda De Meirleir, Luc Regal, Charlotte Pierron
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79
Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, lon
Autor:
Maximilian Zeyda, Viktor Kozich, Dimitris Platis, Damilya Salimbayeva, Patricia Borde, Jurgita Songailiene, Vyacheslav Mitkin, Dobry Dimitrov, Basak Tezel, David Cheillan, Nazi Tabatadze, Tatjana Milenkovic, Rolf Zetterström, Loretta O'Grady, Urh Groselj, Mirjana Kocova, Leifur Franzson, François Boemer, Natalia Usurelu, Ian Brincat, Maria Knapkova, Anastasiia Kremezna, James R. Bonham, Eugènie H. B. M. Dekkers, Peter C. J. I. Schielen, Mira Samardzic, Parsla Vevere, Danijela Ramadza, Shlomo Almashanu, Rolf D. Pettersen, Ruth Mikelsaar, Mariusz Ołtarzewski, Vjosa Kotori, Florentina Moldovanu, Marios Vogazianos, Ralph Fingerhut, Raquel Yahyaoui, Ildikó Szatmári, David M. Hougaard, J. Gerard Loeber, Uta Ceglarek, Riikka Kurkijärvi, Alma Toromanovic, Irina Tovmasyan, Markhabo Shamsiddinova, Giancarlo la Marca, Laura Vilarinho
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International audience; Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8d05e2876f51b49ff9cea9d13f73c4
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
Autor:
France Debaugnies, Bhavna Mahadeb, Carole Nagant, Nathalie Meuleman, David De Bels, Fleur Wolff, Philippe Gottignies, Adriano Salaroli, Patricia Borde, Michel Voué, Francis Corazza
Publikováno v:
Journal of clinical immunology. 41(3)
Many biomarkers have been proposed for the diagnosis of secondary hemophagocytic lymphohistiocytosis (HLH) in adults, but comparative studies are lacking. We analyzed ferritin, glycosylated ferritin, soluble CD25, CD163 and CD14, IL-6, IFN-γ, IL-18,
Autor:
Franck Morceau, Sylvie Delhalle, Annelyse Duvoix, Mario Dicato, Patricia Borde-Chiché, Marc Diederich, Michael Schnekenburger, Romain Blasius
Publikováno v:
Cancer letters. 216(2)
Glutathione S-transferases (GST) are involved in cellular protection against xenobiotics, oxidative stress as well as in resistance against chemotherapeutic compounds such as doxorubicin. Levels of human placental type GSTP1-1 are known to be increas
Autor:
Franck Morceau, Alvaro Puga, Maria Wellman, Patricia Borde-Chiché, Marc Diedericha, Mario Dicato
Publikováno v:
Biochemical pharmacology. 61(5)
To study the relationship between methylation and the transcriptional activity of the minimal promoter of the glutathione S-transferase GSTP1 gene encoding glutathione S-transferase P1-1, GSTP1 mRNA levels as well as basal promoter activity were comp
Publikováno v:
Leukemia research. 25(3)
Overexpression of the glutathione S-transferase P1 (GSTP1) gene is related to drug resistance in human cancer cells. However, the mechanisms of the transcriptional activation of this gene remain unclear. In this study, we examined the molecular mecha