Zobrazeno 21 - 30
of 57
pro vyhledávání: '"Desirée E.C. Smith"'
Autor:
Deepani W. Poramba-Liyanage, Hanneke Vlaming, Thom M Molenaar, A. F. Maarten Altelaar, Tessy Korthout, Liesbeth Hoekman, Sjoerd Hendriks, Tibor van Welsem, Fred van Leeuwen, Arno Velds, Desirée E.C. Smith
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c0f44c434ad6a09f615731fce84520f
https://doi.org/10.7554/elife.18919.036
https://doi.org/10.7554/elife.18919.036
Autor:
Paula Leandro, Ana Pop, Leo A. J. Kluijtmans, Gajja S. Salomons, Henrique G. Colaço, Marisa I. Mendes, Henk J. Blom, Isabel Tavares de Almeida, Desirée E.C. Smith, Ruben Ramos, Isabel Rivera, Mirian C. H. Janssen, Silvy J. M. van Dooren
Publikováno v:
Journal of Inherited Metabolic Disease, 37(2), 245-254. Springer Netherlands
Mendes, M I S, Colaco, H G, Smith, D E C, Ramos, R J J F, Pop, A, van Dooren, S J M, de Almeida, I T, Kluijtmans, L A J, Janssen, M C H, Rivera, I, Salomons, G S, Leandro, P & Blom, H J 2014, ' Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients ', Journal of Inherited Metabolic Disease, vol. 37, no. 2, pp. 245-254 . https://doi.org/10.1007/s10545-013-9647-6
Journal of Inherited Metabolic Disease, 37, 2, pp. 245-54
Journal of Inherited Metabolic Disease, 37, 245-54
Mendes, M I S, Colaco, H G, Smith, D E C, Ramos, R J J F, Pop, A, van Dooren, S J M, de Almeida, I T, Kluijtmans, L A J, Janssen, M C H, Rivera, I, Salomons, G S, Leandro, P & Blom, H J 2014, ' Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients ', Journal of Inherited Metabolic Disease, vol. 37, no. 2, pp. 245-254 . https://doi.org/10.1007/s10545-013-9647-6
Journal of Inherited Metabolic Disease, 37, 2, pp. 245-54
Journal of Inherited Metabolic Disease, 37, 245-54
A reduced response of cystathionine beta-synthase (CBS) to its allosteric activator S-adenosylmethionine (SAM) has been reported to be a cause of CBS dysfunction in homocystinuria patients. In this work we performed a retrospective analysis of fibrob
Autor:
Yvo M. Smulders, Cornelis Jakobs, Henk J. Blom, Apolline Imbard, R. M. Kok, Desirée E.C. Smith, Rob Barto
Publikováno v:
Imbard, A, Smulders, Y M, Barto, R, Smith, D E C, Kok, R M, Jakobs, C A J M & Blom, H J 2013, ' Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers ', Clinical Chemistry and Laboratory Medicine, vol. 51, no. 3, pp. 683-692 . https://doi.org/10.1515/cclm-2012-0302
Clinical Chemistry and Laboratory Medicine, 51(3), 683-692. Walter de Gruyter GmbH
Clinical Chemistry and Laboratory Medicine, 51(3), 683-692. Walter de Gruyter GmbH
Background Choline is essential for mammalian cell function. It plays a critical role in cell membrane integrity, neurotransmission, cell signaling and lipid metabolism. Moreover, choline is involved in methylation in two ways: a) its synthesis requi
Autor:
Henk J. Blom, Laurent Bigler, Yvo M. Smulders, Desirée E.C. Smith, Jean-Christophe Prost, Michael Linnebank, Alexander Semmler
Publikováno v:
Semmler, A, Prost, J C, Smulders, Y M, Smith, D E C, Blom, H J, Bigler, L & Linnebank, M 2013, ' Methylation metabolism in sepsis and systemic inflammatory response syndrome ', Scandinavian Journal of Clinical and Laboratory Investigation, vol. 73, no. 5, pp. 368-372 . https://doi.org/10.3109/00365513.2013.785587
Scandinavian Journal of Clinical and Laboratory Investigation, 73(5), 368-372. Informa Healthcare
Scandinavian Journal of Clinical and Laboratory Investigation, 73(5), 368-372. Informa Healthcare
We have recently shown that sepsis leads to alterations of methylation metabolism in a rodent model. In this study we analyzed methylation metabolism and DNA methylation in human sepsis. Patients treated in one of the Intensive Care Units (ICU) at th
Autor:
Marisa I. Mendes, Henk J. Blom, Desirée E.C. Smith, Mirian C. H. Janssen, Yvo M. Smulders, Leo A. J. Kluijtmans
Publikováno v:
Journal of Chromatography. B, 911, 186-91
Journal of Chromatography B, 911, 186-191. Elsevier
Journal of Chromatography. B, 911, pp. 186-91
Smith, D E C, Mendes, M I S, Kluijtmans, L A J, Janssen, M C H, Smulders, Y M & Blom, H J 2012, ' A liquid chromatography mass spectrometry method for the measurement of cystathionine beta-synthase activity in cell extracts ', Journal of Chromatography B, vol. 911, pp. 186-191 . https://doi.org/10.1016/j.jchromb.2012.10.041
Journal of Chromatography B, 911, 186-191. Elsevier
Journal of Chromatography. B, 911, pp. 186-91
Smith, D E C, Mendes, M I S, Kluijtmans, L A J, Janssen, M C H, Smulders, Y M & Blom, H J 2012, ' A liquid chromatography mass spectrometry method for the measurement of cystathionine beta-synthase activity in cell extracts ', Journal of Chromatography B, vol. 911, pp. 186-191 . https://doi.org/10.1016/j.jchromb.2012.10.041
Item does not contain fulltext Background: In order to correctly assess the efficacy of therapy or diet in intervention studies on the activity of cystathionine beta-synthase (CBS) a sensitive analytical method is necessary. Methods: An electrospray
Autor:
Melinda Farkas, Alexander Semmler, Henk J. Blom, Desirée E.C. Smith, Julius Popp, Yvo M. Smulders, Frank Jessen, Michael Linnebank
Publikováno v:
Clinical Chemistry and Laboratory Medicine, 50(9), 1641-1647. Walter de Gruyter GmbH
Smith, D E C, Smulders, Y M, Blom, H J, Popp, J, Jessen, F, Semmler, A, Farkas, M & Linnebank, M 2012, ' Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid ', Clinical Chemistry and Laboratory Medicine, vol. 50, no. 9, pp. 1641-1647 . https://doi.org/10.1515/cclm-2012-0056
Smith, D E C, Smulders, Y M, Blom, H J, Popp, J, Jessen, F, Semmler, A, Farkas, M & Linnebank, M 2012, ' Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid ', Clinical Chemistry and Laboratory Medicine, vol. 50, no. 9, pp. 1641-1647 . https://doi.org/10.1515/cclm-2012-0056
Disturbances in the levels of one-carbon (1C) metabolism metabolites have been associated with a wide variety of neuropsychiatric diseases. Cerebrospinal fluid (CSF) levels of homocysteine (Hcy) and the other 1C metabolites, nor their interrelatednes
Autor:
Göran Brandberg, Eduard A. Struys, Henk J. Blom, Joakim Lundeberg, Martin Engvall, Maria Falkenberg, Nicole Lesko, Anna Wedell, Magnus K. Bjursell, Ulrika von Döbeln, Cornelis Jakobs, Claes M. Gustafsson, Maria Halldin, Shanti Balasubramaniam, Jordi Asin Cayuela, Desirée E.C. Smith
Publikováno v:
American journal of human genetics, 89(4), 507-515. Cell Press
Bjursell, M K, Blom, H J, Cayuela, J A, Engvall, M L, Lesko, N, Balasubramaniam, S, Brandberg, G, Halldin, M, Falkenberg, M, Jakobs, C A J M, Smith, D, Struys, E A, von Dobeln, U, Gustafsson, C M, Lundeberg, J & Wedell, A 2011, ' Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function ', American journal of human genetics, vol. 89, no. 4, pp. 507-515 . https://doi.org/10.1016/j.ajhg.2011.09.004
Bjursell, M K, Blom, H J, Cayuela, J A, Engvall, M L, Lesko, N, Balasubramaniam, S, Brandberg, G, Halldin, M, Falkenberg, M, Jakobs, C A J M, Smith, D, Struys, E A, von Dobeln, U, Gustafsson, C M, Lundeberg, J & Wedell, A 2011, ' Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function ', American journal of human genetics, vol. 89, no. 4, pp. 507-515 . https://doi.org/10.1016/j.ajhg.2011.09.004
Four inborn errors of metabolism (IEMs) are known to cause hypermethioninemia by directly interfering with the methionine cycle. Hypermethioninemia is occasionally discovered incidentally, but it is often disregarded as an unspecific finding, particu
Autor:
Karl-Peter Hopfner, Karlheinz Holzmann, Yvo M. Smulders, Henk J. Blom, Nenad Blau, Eva-Maria Rump, Harald Bode, Klaus Schwarz, Elisabeth Kohne, Ulrich Pannicke, Klaus-Michael Debatin, Zuleya Ayric, Desirée E.C. Smith, Holger Cario
Publikováno v:
American journal of human genetics, 88(2), 226-231. Cell Press
Cario, H, Smith, D E C, Blom, H J, Blau, N, Bode, H, Holzmann, K, Pannicke, U, Hopfner, K P, Rump, E M, Ayric, Z, Kohne, E, Debatin, K M, Smulders, Y M & Schwarz, K 2011, ' Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease ', American journal of human genetics, vol. 88, no. 2, pp. 226-231 . https://doi.org/10.1016/j.ajhg.2011.01.007
Cario, H, Smith, D E C, Blom, H J, Blau, N, Bode, H, Holzmann, K, Pannicke, U, Hopfner, K P, Rump, E M, Ayric, Z, Kohne, E, Debatin, K M, Smulders, Y M & Schwarz, K 2011, ' Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease ', American journal of human genetics, vol. 88, no. 2, pp. 226-231 . https://doi.org/10.1016/j.ajhg.2011.01.007
The importance of intracellular folate metabolism is illustrated by the severity of symptoms and complications caused by inborn disorders of folate metabolism or by folate deficiency. We examined three children of healthy, distantly related parents p
Autor:
Frank Jessen, Luka Kulic, Yvo M. Smulders, Julius Popp, Michael Weller, Desirée E.C. Smith, Alexander Semmler, Melinda Farkas, Birgit Stoffel-Wagner, Henk J. Blom, Heike Kölsch, Michael Linnebank, Gabriela Cvetanovska
Publikováno v:
Neurodegenerative Diseases. 7:373-378
Background: Increased plasma homocysteine levels have been described as an independent risk factor for Alzheimer’s disease (AD), but the underlying pathophysiology is unclear. Objective: This single-center, cross-sectional, correlational study anal
Autor:
Satz Mengensatzproduktion, Birgit Stoffel-Wagner, Luka Kulic, Lydia Giménez-Llort, Pelayo Camps, Johanna Sundqvist, Jens P. Reese, Yvo M. Smulders, Julius Popp, Monika Balzer-Geldsetzer, Gabriel Fried, Giuseppe Spiga, Karla Eggert, Frank Jessen, Alexander Semmler, Melinda Farkas, Kai Boetzel, Christina Unger Lithner, Michael Linnebank, Miriam Ratia, Agneta Nordberg, Monika M. Hedberg, Sonja von Campenhausen, Desirée E.C. Smith, Richard Dodel, Katia Longo, Gabriela Cvetanovska, Henk J. Blom, Yaroslav Winter, Druck Reinhardt Druck Basel, Linda Csöregh Nord, Heike Kölsch, Eva Andersson, Paolo Barone, Diego Muñoz-Torrero, Michael Weller, Wolfgang H. Oertel, Albert Badia, M. Victòria Clos, Daniel Gonzalez
Publikováno v:
Neurodegenerative Diseases. 7:I-IV