Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Andrea Schlune"'
Autor:
Clarissa Spiegler, Sara Jansen, Leonie Burgard, Friederike Wittig, Anna-Kristin Brettschneider, Andrea Schlune, Thorsten Heuer, Andrea Straßburg, Silvia Roser, Stefan Storcksdieck Genannt Bonsmann, Regina Ensenauer
Publikováno v:
Frontiers in Nutrition, Vol 11 (2024)
IntroductionEvidence points toward the early life being crucial for preventing nutrition-related diseases. As promotion of healthier food preferences in toddlerhood and preschool age might still modulate the trajectories of disease risk, understandin
Externí odkaz:
https://doaj.org/article/1ca4e14fa1d6496f89cbccde3c6cd286
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 7 (2018)
Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker me
Externí odkaz:
https://doaj.org/article/5ff4951bce284e58b9c0bbfdeb723e70
Autor:
Rachel Skeath, Annemiek M. J. van Wegberg, Kit Kaalund Hansen, Isidro Vitoria, Sandrine Dubois, Júlio César Rocha, Helle Vestergaard, Alice Dianin, François Feillet, Giorgia Gallo, Karen Corthouts, Sandrine Le Verge, Camille Jankowski, Anita MacDonald, Kathleen Ross, Irene Kok, Sandra Bollhalder, Linn Helene Stolen, Heidi Chan, F.J. White, Agnieszka Kowalik, Alison Tooke, David Cassiman, Foekje de Boer, Amaya Belanger-Quintana, Ana Faria, Hazel Rogozinski, Lucy White, Marleen van Driessche, Alex Pinto, Heidi Zweers, M.F. Almeida, R. Lilje, Gudrun Elise Kahrs, Margreet van Rijn, Carla Vasconcelos, C. Timmer, Lyndsey Tomlinson, Cornelia Maddalon, A. Terry, Kristel Vande Kerckhove, Esther van Dam, Ilana Jones, Elisabeth Sjoqvist, U. Meyer, Liesbeth van der Ploeg, Ulrike Och, Marjorie Dixon, Ilaria Fasan, Diana Webster, Dorine T.A.M. van den Hurk, Joanna Gribben, Helena Champion, Catherine Jouault, Kath Singleton, Katharina Dokoupil, Anne Daly, Jaime Dalmau, Elisabeth Favre, Doris Mayr, Silvia Maria Bernabei, An de Meyer, François Eyskens, A. Liguori, Catherine Laguerre, Nienke Ter Horst, Carmen Rohde, Sharon Evans, An Desloovere, Corinne De Laet, Andrea Schlune, Martine Robert, M. Assoun, Anna Fekete, Isabelle Saruggia, Cerys Gingell, Renske Janssen-Regelink, A. Micciche
Publikováno v:
Journal of Pediatric Endocrinology & Metabolism, 33, 147-155
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter
Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and
Autor:
Georg F. Hoffmann, Ute Spiekerkötter, Friederike Bürger, Hilal Al Rifai, Ghassan Abdoh, Tawfeg Ben Omran, Jan Schmidt, Jens-Peter Schenk, Andrea Schlune, Ahmad Monavari, Stefan Kölker, Marc Yudkoff, Vassiliki Konstantopoulou, Jürgen Weitz, Jochen Meyburg, Jürgen G. Okun, Thomas Opladen
Publikováno v:
Journal of Inherited Metabolic Disease. 41:81-90
Urea cycle disorders (UCDs) still have a poor prognosis despite several therapeutic advancements. As liver transplantation can provide a cure, liver cell therapy (LCT) might be a new therapeutic option in these patients. Twelve patients with severe U
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:
Tomas Jelenik, Soner Öner-Sieben, Alessandra Bierwagen, Jasmin Mennenga, Giovanni Pacini, Daniel F. Markgraf, Daria Caspari, Diran Herebian, Ertan Mayatepek, Jong-Hee Hwang, Andrea Schlune, Regina Ensenauer, Thomas Meissner, Nicola Santoro, Sonia Caprio, Stephan vom Dahl, Dirk Klee, Michael Roden, Sofiya Gancheva, Maik Rothe, Eva Thimm
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 43(5)
Classical organic acidemias (OAs) result from defective mitochondrial catabolism of branched-chain amino acids (BCAAs). Abnormal mitochondrial function relates to oxidative stress, ectopic lipids and insulin resistance (IR). We investigated whether g
Autor:
Nina L. Schrager, Brunhilde Riesner, Markus G. Donner, Hanno Ulmer, Jaime M. Brum, Turgay Coşkun, Özlem Ünal, Andrea Schlune, Johannes Häberle, James D. Weisfeld-Adams, Sabine Scholl-Bürgi, Martina Huemer, Daniel R. Carvalho, Claudio Gemperle, Daniela Karall, Martin Hersberger
Publikováno v:
Journal of inherited metabolic disease
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency
Autor:
Karit Reinson, F. Lang, M.E. Dijsselhof, J. Żółkowska, K. Dokoupil, T.A.M. van den Hurk, W. Eberle-Pelloth, Anita MacDonald, Carolyn Dunlop, María A. Ruiz, D. Barrio-Carreras, T. Kozanoğlu, K. Vande Kerckhove, I. Jardim, Andrea Schlune, L. François, J. Wildgoose, C. Correia, A. Re Dionigi, A. De Theux, Bozena Didycz, S. De Leo, A. Skarpalezou, P. Manta-Vogli, K. Straczek, K. Chyż, A. Chrobot, H. Gokmen Ozel, Clara Vasconcelos, Maria Gizewska, Alex Pinto, Karen Corthouts, V. Velez García, M. Jörg-Streller, A. Belanger Quintana, C. Meneses, Barbara Cochrane, M.F. Almeida, K. Schulpis, C. Pedrón-Giner, R. Lilje, A. Grimsley, A.M.J. van Wegberg, T. Winkler, R. Hensler, Júlio César Rocha, G. Bruni, Louise Robertson, K. Plutowska-Hoffmann, M. Bueno-Delgado, N. Koç, Anne Daly, L. Fokkema, R. Pereira, K. Ahring, D. Garcia-Arenas, Andreas Jung, Martine Robert, S.M. Olivas, J. Serrano-Nieto, J. Saligova, S.M. Bernabei, Ulrike Och, E. Forssell, Jetta Tuokkola, R. Thom, I. Liegeois, J. Ekengren, C. Jouault, A. Gutiérrez-Sánchez, K. Lang, Camille Newby, Nur Arslan, U. Meyer, C. Joost, Moira French, C. Bontemps, H. Allen, M. Kanthe, Juri Zuvadelli, E. van Dam, A. Foucart, M. Van Driessche, I.L. Kok, A. De Meyer, J. Drabik, Carmen Rohde, Rachel Skeath, Sharon Evans, An Desloovere, C. Gingell, E.M.C. van der Ploeg, D. Mayr, E. Gyüre, Y. Atik Altınok, B. Kumru, O. Ļubina, A. Slabbert, Stefanie Rosenbaum-Fabian, G. Gugelmo, Claire Nicol, G. Caine, I. Errekalde, A. Liguori, Sandra Adams, A. Rossi, A. Tooke, R. Carvalho, J. Purves, C. Heller, M. Assoun, Carolina Gonçalves, K. Eftring, F. Boyle, A. Terry, S. Mexia, K. van Wyk
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, 16, pp. 82-89
Molecular Genetics and Metabolism Reports, 16, 82. Elsevier BV
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, 16, 82-89. Elsevier Science
Molecular Genetics and Metabolism Reports, Vol. 16, no. ?, p. 82-89 (2018)
Molecular Genetics and Metabolism Reports, 16, 82-89
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, 16, 82-89. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 82-89 (2018)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, 16, pp. 82-89
Molecular Genetics and Metabolism Reports, 16, 82. Elsevier BV
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, 16, 82-89. Elsevier Science
Molecular Genetics and Metabolism Reports, Vol. 16, no. ?, p. 82-89 (2018)
Molecular Genetics and Metabolism Reports, 16, 82-89
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, 16, 82-89. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 82-89 (2018)
WOS: 000442229500021
PubMed ID: 30101073
Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a P
PubMed ID: 30101073
Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d942c40638f6ca21973930945496c0c6
Autor:
Mübeccel Demirkol, Christian Staufner, Toshiyuki Fukao, Gülden Gökçay, Sonja Marina Schlatter, Gepke Visser, Mahmut Çoker, Karl Otfried Schwab, Volker Berg, Corinne Gemperle-Britschgi, Terry G J Derks, Vassiliki Konstantopoulou, Mehmet Balci, Jörn Oliver Sass, Amelie S. Lotz-Havla, Sema Kalkan Uçar, Anibh M. Das, Andrea Schlune, Christel Tran, Sarah C. Grünert, G. Christoph Korenke, Robert Niklas Schmitt
Publikováno v:
Molecular Genetics and Metabolism, 122(1-2), 67-75. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 122(1-2), 67. Academic Press Inc.
Molecular Genetics and Metabolism, 122(1-2), 67. Academic Press Inc.
2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdfc84aac681de0da8ab5d0e00bca976
https://research.rug.nl/en/publications/7c6dda46-746a-4167-9e7e-b6de9a37c932
https://research.rug.nl/en/publications/7c6dda46-746a-4167-9e7e-b6de9a37c932
Autor:
Mehmet Balci, Grant A. Mitchell, Jörn Oliver Sass, Sonja Marina Schlatter, Lenka Mrázová, Mahmut Çoker, Christian Staufner, Corinne Gemperle-Britschgi, Maaike de Vries, Thomas Lücke, Sema Kalkan Uçar, Felix Bischof, Sarah C. Grünert, Amelie S. Lotz-Havla, Andrea Schlune, Anibh M. Das, René Santer, Dominique Roland, Karl Otfried Schwab, Robert Niklas Schmitt, Gülden Gökçay, Mübeccel Demirkol, Johannes Häberle, Frank Rutsch
Publikováno v:
Molecular genetics and metabolism. 121(3)
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected