Zobrazeno 1 - 10
of 24
pro vyhledávání: '"E. Sjoqvist"'
Autor:
M. Pankratova, I. P. Miranda, D. Thonig, M. Pereiro, E. Sjöqvist, A. Delin, P. Scheid, O. Eriksson, A. Bergman
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Despite decades of research, the role of the lattice and its coupling to the magnetisation during ultrafast demagnetisation processes is still not fully understood. Here we report on studies of both explicit and implicit lattice effects on l
Externí odkaz:
https://doaj.org/article/df2ae01a1b0b4cfc8af861933a3b1212
Autor:
A. Pinto, M. Alfadhel, R. Akroyd, Y. Atik Altınok, S. M. Bernabei, L. Bernstein, G. Bruni, G. Caine, E. Cameron, R. Carruthers, B. Cochrane, A. Daly, F. de Boer, S. Delaunay, A. Dianin, M. Dixon, E. Drogari, S. Dubois, S. Evans, J. Gribben, G. Gugelmo, C. Heidenborg, I. Hunjan, I. L. Kok, B. Kumru, A. Liguori, D. Mayr, E. Megdad, U. Meyer, R. B. Oliveira, A. Pal, A. Pozzoli, R. Pretese, J. C. Rocha, S. Rosenbaum-Fabian, J. Serrano-Nieto, E. Sjoqvist, C. Timmer, L. White, T. van den Hurk, M. van Rijn, H. Zweers, M. Ziadlou, A. MacDonald
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avo
Externí odkaz:
https://doaj.org/article/3ef8b5150b9448b684a2518f94e728be
Autor:
A. Daly, A. Pinto, S. Evans, M.F. Almeida, M. Assoun, A. Belanger-Quintana, S.M. Bernabei, S. Bollhalder, D. Cassiman, H. Champion, H. Chan, J. Dalmau, F. de Boer, C. de Laet, A. de Meyer, A. Desloovere, A. Dianin, M. Dixon, K. Dokoupil, S. Dubois, F. Eyskens, A. Faria, I. Fasan, E. Favre, F. Feillet, A. Fekete, G. Gallo, C. Gingell, J. Gribben, K. Kaalund Hansen, N.M. Ter Horst, C. Jankowski, R. Janssen-Regelink, I. Jones, C. Jouault, G.E. Kahrs, I.L. Kok, A. Kowalik, C. Laguerre, S. Le Verge, R. Lilje, C. Maddalon, D. Mayr, U. Meyer, A. Micciche, U. Och, M. Robert, J.C. Rocha, H. Rogozinski, C. Rohde, K. Ross, I. Saruggia, A. Schlune, K. Singleton, E. Sjoqvist, R. Skeath, L.H. Stolen, A. Terry, C. Timmer, L. Tomlinson, A. Tooke, K. Vande Kerckhove, E. van Dam, T. van den Hurk, L. van der Ploeg, M. van Driessche, M. van Rijn, A. van Wegberg, C. Vasconcelos, H. Vestergaard, I. Vitoria, D. Webster, F.J. White, L. White, H. Zweers, A. MacDonald
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 83-89 (2017)
Background: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. Aim: To describe European dietary practices in the management of patients w
Externí odkaz:
https://doaj.org/article/0cdc119d4cb043f7a29604303da07a36
Autor:
A. Pinto, A. Daly, S. Evans, M.F. Almeida, M. Assoun, A. Belanger-Quintana, S. Bernabei, S. Bollhalder, D. Cassiman, H. Champion, H. Chan, J. Dalmau, F. de Boer, C. de Laet, A. de Meyer, A. Desloovere, A. Dianin, M. Dixon, K. Dokoupil, S. Dubois, F. Eyskens, A. Faria, I. Fasan, E. Favre, F. Feillet, A. Fekete, G. Gallo, C. Gingell, J. Gribben, K. Kaalund-Hansen, N. Horst, C. Jankowski, R. Janssen-Regelink, I. Jones, C. Jouault, G.E. Kahrs, I.L. Kok, A. Kowalik, C. Laguerre, S. Le Verge, R. Lilje, C. Maddalon, D. Mayr, U. Meyer, A. Micciche, M. Robert, J.C. Rocha, H. Rogozinski, C. Rohde, K. Ross, I. Saruggia, A. Schlune, K. Singleton, E. Sjoqvist, L.H. Stolen, A. Terry, C. Timmer, L. Tomlinson, A. Tooke, K. Vande Kerckhove, E. van Dam, T. van den Hurk, L. van der Ploeg, M. van Driessche, M. van Rijn, A. van Teeffelen-Heithoff, A. van Wegberg, C. Vasconcelos, H. Vestergaard, I. Vitoria, D. Webster, F.J. White, L. White, H. Zweers, A. MacDonald
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 16-22 (2017)
Background: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. Aim: To describe European practice regarding the dietary management of IVA, prior to the availa
Externí odkaz:
https://doaj.org/article/afb8ae2da10a446d876a5408fd187a9e
Autor:
David Cassiman, M.F. Almeida, R. Lilje, Amaya Belanger-Quintana, L. Tomlinson, A.M.J. van Wegberg, U. Meyer, E. van Dam, A. Kowalik, S. Bollhalder, M. Van Driessche, C. Jouault, Clara Vasconcelos, C. de Laet, K. Vande Kerckhove, Júlio César Rocha, Cornelia Maddalon, A. Faria, Lee W. White, A. De Meyer, Kath Singleton, F. Eyskens, L. van der Ploeg, T.A.M. van den Hurk, E. Sjoqvist, A. Terry, D. Mayr, M. van Rijn, Jaime Dalmau, Marjorie Dixon, A. Micciche, Carmen Rohde, Alison Tooke, Anita MacDonald, Kathleen Ross, S.M. Bernabei, I.L. Kok, C. Timmer, R. Janssen-Regelink, Isidro Vitoria, S. Le Verge, G. Gallo, A. Dianin, H. Champion, H. Chan, Sharon Evans, An Desloovere, A. van Teeffelen-Heithoff, François Feillet, Sandrine Dubois, I. Fasan, N. Horst, H. Vestergaard, Joanna Gribben, A. Fekete, M. Assoun, F. de Boer, D. Webster, Cerys Gingell, C. Laguerre, I. Jones, Gudrun Elise Kahrs, H. Zweers, K. Kaalund-Hansen, Linn Helene Stolen, I. Saruggia, H. Rogozinski, Martine Robert, Anne Daly, F.J. White, Alex Pinto, K. Dokoupil, E. Favre, Andrea Schlune, C. Jankowski
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics And Metabolism Reports
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 16-22 (2017)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Genetics and Metabolism Reports, 12, 16-22. Elsevier Science
Molecular Genetics and Metabolism Reports, 12, 16-22
Molecular genetics and metabolism reports, 12, 16-22. Elsevier BV
Molecular Genetics and Metabolism Reports, 12
Molecular Genetics and Metabolism Reports, 12, pp. 16-22
Molecular genetics and metabolism reports, 12, 16-22. ELSEVIER SCIENCE BV
Molecular Genetics And Metabolism Reports
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 16-22 (2017)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Genetics and Metabolism Reports, 12, 16-22. Elsevier Science
Molecular Genetics and Metabolism Reports, 12, 16-22
Molecular genetics and metabolism reports, 12, 16-22. Elsevier BV
Molecular Genetics and Metabolism Reports, 12
Molecular Genetics and Metabolism Reports, 12, pp. 16-22
Molecular genetics and metabolism reports, 12, 16-22. ELSEVIER SCIENCE BV
Background In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. Aim To describe European practice regarding the dietary management of IVA, prior to the availabi
Autor:
U. Meyer, R. Pretese, Abhijit Ricky Pal, G. Caine, E. Sjoqvist, A. Dianin, Laurie Bernstein, R. Akroyd, M. van Rijn, Sharon Evans, M. Ziadlou, I. L. Kok, C. Timmer, E. Megdad, T.A.M. van den Hurk, G. Gugelmo, Y. Atik Altınok, Anita MacDonald, Majid Alfadhel, J. Serrano-Nieto, R. B. Oliveira, Sandrine Dubois, Inderdip Hunjan, Lucy White, Marjorie Dixon, S. Rosenbaum-Fabian, A. Pozzoli, E. Drogari, Alex Pinto, Carina Heidenborg, Barbara Cochrane, Júlio César Rocha, S. Delaunay, A. Liguori, E. Cameron, Joanna Gribben, R. Carruthers, S.M. Bernabei, D. Mayr, B. Kumru, G. Bruni, F. de Boer, Anne Daly, H. Zweers
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13,
Orphanet Journal of Rare Diseases, 13, pp.
Orphanet journal of rare diseases, 13(1). BioMed Central
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13,
Orphanet Journal of Rare Diseases, 13, pp.
Orphanet journal of rare diseases, 13(1). BioMed Central
WOS: 000423688500002
PubMed ID: 29370874
Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Althou
PubMed ID: 29370874
Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e306cd9cd351d24ee56e05a22264debb
https://dspace.library.uu.nl/handle/1874/375211
https://dspace.library.uu.nl/handle/1874/375211
Autor:
Karen Corthouts, P. Portnoi, M. Heddrich-Ellerbrok, Isidro Vitoria, U. Meyer, S.M. Bernabei, A. Micciche, M. Robert, Louise Robertson, Carina Heidenborg, S. Dawson, Alessandro P. Burlina, Suzanne Ford, S. Rosenbaum-Fabian, K. Luyten, S. Boocock, S. Schultz, A. van Teeffelen-Heithoff, T. Coote, K. Sahm, Katharina Dokoupil, I. Fasan, J. Wenz, G. Gallo, C. Timmer, C. Ferguson, S. Defourny, M. Diels, Sarah C. Grünert, Kath Singleton, M. Van Driessche, J. Wildgoose, L. Stoelen, L. van der Ploeg, S. Donald, Y. Devlin, M. Forga, M. van Rijn, S. Ripley, E. Sjoqvist, S. Bollhalder, S. Adam, R. Akroyd, Jaime Dalmau, Anita MacDonald, K. Vande Kerckhove, M. Westbrook, H. Zweers, A. De Meyer, E. Müller, Sharon Evans, An Desloovere, C. Voillot, A. Terry, C. Jonkers, S. Thompson, K. Lefebure
Publikováno v:
Molecular Genetics and Metabolism, 115(1), 23. Academic Press Inc.
Molecular Genetics and Metabolism, 115, 23-6
Molecular Genetics and Metabolism, 115(1), 23-26. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism
MOLECULAR GENETICS AND METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular genetics and metabolism, 115(1), 23-26. Academic Press Inc.
Molecular Genetics and Metabolism, 115, 1, pp. 23-6
Molecular Genetics and Metabolism, 115, 23-6
Molecular Genetics and Metabolism, 115(1), 23-26. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism
MOLECULAR GENETICS AND METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular genetics and metabolism, 115(1), 23-26. Academic Press Inc.
Molecular Genetics and Metabolism, 115, 1, pp. 23-6
Dietary management of 418 adult patients with galactosaemia (from 39 centres/12 countries) was compared. All centres advised lactose restriction, 6 restricted galactose from galactosides +/- fruits and vegetables and 12 offal. 38% (n = 15) relaxed di
Autor:
H. Vestergaard, Júlio César Rocha, Joanna Gribben, Sylvain Dubois, Clara Vasconcelos, H. Zweers, U. Meyer, C. Maritz, M. Heddrich-Ellerbrok, S.M. Bernabei, K. Va nde Kerckhove, F.J. White, S. Adam, C. Jankowski, I. Saruggia, S. Bigot, A. van Teeffelen-Heithoff, R. Link, A. Terry, J. Wildgoose, J. Baruteau, François Eyskens, K. van Wyk, R.G. Janssen-Regelink, C. Ferguson, A.M.J. van Wegberg, M. Robert, C. Laguerre, K. Luyten, Marjorie Dixon, R. Thom, Louise Robertson, S. Dawson, Anne Daly, Katharina Dokoupil, Carolyn Dunlop, Anita MacDonald, A. Faria, S. Lowry, M.F. Almeida, E. Favre, M. van Rijn, M. Dassy, E. Sjoqvist, H. Champion, C. Jouault, S. McDowell, Carmen Rohde, S. Le Verge, Sharon Evans, J. Stafford, M. Assoun, Carolina Gonçalves, D. Webster, A. Micciche
Publikováno v:
Molecular Genetics and Metabolism, 110, 4, pp. 439-45
Molecular genetics and metabolism
Molecular Genetics and Metabolism, 110, 439-45
Molecular Genetics and Metabolism, 110(4), 439-445. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism
Molecular Genetics and Metabolism, 110, 439-45
Molecular Genetics and Metabolism, 110(4), 439-445. ACADEMIC PRESS INC ELSEVIER SCIENCE
Background: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries.Methods: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium,
Autor:
J. Wildgoose, K. Kaalund-Hansen, K. Eftring, C. Jankowski, D. Lier, S. Saruhan, S. Bigot, M. van Rijn, I. Jones, A. Clark, A. De Meyer, K. Luyten, Carmen Rohde, K. Lang, N. Tuncer, Sharon Evans, E. Sjoqvist, K. Vande Kerckhove, F.J. White, M. Heddrich-Ellerbrok, K. Blom Malmberg, R.G. Janssen-Regelink, H. Zweers, Hulya Gokmen-Ozel, A. Terry, Karen Corthouts, A.M. Lammardo, Júlio César Rocha, Clara Vasconcelos, Maria Gizewska, C. Ellerton, Martine Dassy, H. Chan, S. Lowry, K. van Wyk, N.M. Ter Horst, S. Clark, K. Dokupil, A. Faria, K. Ahring, C. Timmer, A. Belanger Quintana, Isidro Vitoria, F. Gunden, M. Diels, Sylvain Dubois, A. van Teeffelen-Heithoff, M. Joerg-Streller, S. Heiber, T. Bushueva, L. Stoelen, Alessandro P. Burlina, M. Assoun, Bozena Didycz, Abhijit Ricky Pal, D. Webster, C. Jonkers, L. van der Ploeg, G. Bihet, D. Moor, R. Skeath, J. Ekengren, U. Meyer, A. Aguiar, Jaime Dalmau, Anita MacDonald, Kathleen Ross, A. Fischer, M. Robert, F. J. van Spronsen, A.M.J. van Wegberg, Joanna Gribben, Carina Heidenborg, Suzanne Ford, Barbara Cochrane, M.F. Almeida, R. Lilje, L. Robertson, Peter Freisinger, A. Caris, E. Kiss
Publikováno v:
Molecular genetics and metabolism, 115(1), 17-22. Academic Press Inc.
Molecular genetics and metabolism
MOLECULAR GENETICS AND METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Genetics and Metabolism, 115(1), 17-22. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 115, 1, pp. 17-22
Molecular Genetics and Metabolism, 115, 17-22
Molecular Genetics and Metabolism, 115(1), 17. Academic Press Inc.
Molecular genetics and metabolism
MOLECULAR GENETICS AND METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Genetics and Metabolism, 115(1), 17-22. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 115, 1, pp. 17-22
Molecular Genetics and Metabolism, 115, 17-22
Molecular Genetics and Metabolism, 115(1), 17. Academic Press Inc.
Background: There appears little consensus concerning protein requirements in phenylketonuria (PKU). Methods: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natura
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31964a57eca445eead65d48acda5743b
https://doi.org/10.1016/j.ymgme.2015.03.006
https://doi.org/10.1016/j.ymgme.2015.03.006
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