المؤلفون: Riley, Lisa G., Heeney, Matthew M., Rudinger-Thirion, Joëlle, Frugier, Magali, Campagna, Dean R., Zhou, Ronghao, Hale, Gregory A., Hilliard, Lee M., Kaplan, Joel A., Kwiatkowski, Janet L., Sieff, Colin A., Steensma, David P., Rennings, Alexander J., Simons, Annet, Schaap, Nicolaas, Roodenburg, Richard J., Kleefstra, Tjitske, Arenillas, Leonor, Fita-Torró, Josep, Ahmed, Rasha, Abboud, Miguel, Bechara, Elie, Farah, Roula, Tamminga, Rienk Y. J., Bottomley, Sylvia S., Sanchez, Mayka, Huls, Gerwin, Swinkels, Dorine W., Christodoulou, John, Fleming, Mark D.

مصطلحات موضوعية: Medicina, Medicine

Time: 61

Relation: Haematologica; 103;12; Riley, Lisa G.; Heeney, Matthew M.; Rudinger-Thirion, Joëlle [et al.]. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica, 2018, 103(12), p. 2008-2015. Disponible en: . Fecha de acceso: 23 ene. 204. DOI:10.3324/haematol.2017.182659; http://hdl.handle.net/20.500.12328/3938; https://dx.doi.org/10.3324/haematol.2017.182659

الاتاحة: https://hdl.handle.net/20.500.12328/3938
https://doi.org/10.3324/haematol.2017.182659

المؤلفون: Ferreira, Elise A., Veenvliet, Annemarijne R. J., Engelke, Udo F. H., Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Hoegen, Brechtje, de Boer, Lonneke, de Vries, Maaike C., van Bon, Bregje W., Leenders, Erika, Cornelissen, Elisabeth A. M., Haaxma, Charlotte A., Schieving, Jolanda H., Rubio-Gozalbo, M. Estela, Körver-Keularts, Irene M. L. W., Marten, Lara M., Diegmann, Susann, Mourmans, Jeroen, Rennings, Alexander J. M., van Karnebeek, Clara D. M., Rodenburg, Richard J., Coene, Karlien L. M.

المصدر: Ferreira , E A , Veenvliet , A R J , Engelke , U F H , Kluijtmans , L A J , Huigen , M C D G , Hoegen , B , de Boer , L , de Vries , M C , van Bon , B W , Leenders , E , Cornelissen , E A M , Haaxma , C A , Schieving , J H , Rubio-Gozalbo , M E , Körver-Keularts , I M L W , Marten , L M , Diegmann , S , Mourmans , J , Rennings , A ....

الاتاحة: https://research.vumc.nl/en/publications/10435cfd-36f1-487d-ac27-490ef23278aa
https://doi.org/10.1016/j.gim.2022.10.002
http://www.scopus.com/inward/record.url?scp=85141531907&partnerID=8YFLogxK

المؤلفون: IJzermans, Ties, van der Meijden, Wilbert, Hoeks, Marlijn, Huigen, Marleen, Rennings, Alexander, Nijenhuis, Tom

المصدر: American Journal of Kidney Diseases ; volume 81, issue 4, page 493-496 ; ISSN 0272-6386

الاتاحة: http://dx.doi.org/10.1053/j.ajkd.2022.08.019
https://api.elsevier.com/content/article/PII:S0272638622009313?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0272638622009313?httpAccept=text/plain

المؤلفون: Haring, Martijn P.D., Peeks, Fabian, Oosterveer, Maaike H., Brouwers, Martijn C.G.J., Hollak, Carla E.M., Janssen, Mirian C.H., Langendonk, Janneke G., Rennings, Alexander J.M., Wagenmakers, Margreet A.E.M., Verkade, Henkjan J., Derks, Terry G.J., de Meijer, Vincent E.

المصدر: Haring , M P D , Peeks , F , Oosterveer , M H , Brouwers , M C G J , Hollak , C E M , Janssen , M C H , Langendonk , J G , Rennings , A J M , Wagenmakers , M A E M , Verkade , H J , Derks , T G J & de Meijer , V E 2022 , ' High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia ' , JHEP Reports , vol. 4 , no. 8 ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/e8a8e894-3a8e-4c58-b66e-e84e9168f43e
https://doi.org/10.1016/j.jhepr.2022.100512
https://pure.eur.nl/ws/files/59980634/High_childhood_serum_triglyceride_concentrations_associate_with_hepatocellular_adenoma_development_in_patients_with_glycogen_storage_disease_type_Ia.pdf
http://www.scopus.com/inward/record.url?scp=85133603877&partnerID=8YFLogxK

المؤلفون: Coene, Karlien L.M., Timmer, Corrie, Goorden, Susan M.I., ten Hoedt, Amber E., Kluijtmans, Leo A.J., Janssen, Mirian C.H., Rennings, Alexander J.M., Prinsen, Hubertus C.M.T., Wamelink, Mirjam M.C., Ruijter, George J.G., Körver-Keularts, Irene M.L.W., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C.D.G.

المصدر: Coene , K L M , Timmer , C , Goorden , S M I , ten Hoedt , A E , Kluijtmans , L A J , Janssen , M C H , Rennings , A J M , Prinsen , H C M T , Wamelink , M M C , Ruijter , G J G , Körver-Keularts , I M L W , Heiner-Fokkema , M R , van Spronsen , F J , Hollak , C E , Vaz , F M , Bosch , A M & Huigen , M C D G 2021 ....

الاتاحة: https://research.vumc.nl/en/publications/e43ed82d-75fc-4a40-b938-11171df3d193
https://doi.org/10.1002/jmd2.12186
http://www.scopus.com/inward/record.url?scp=85102255097&partnerID=8YFLogxK

المؤلفون: Rombout-Sestrienkova, Eva, Winkens, Bjorn, van Kraaij, Marian, van Deursen, Cees Th B M, Janssen, Mirian C H, Rennings, Alexander M J, Evers, Dorothea, Kerkhoffs, Jean-Louis, Masclee, Ad, Koek, Ger H

المصدر: Rombout-Sestrienkova , E , Winkens , B , van Kraaij , M , van Deursen , C T B M , Janssen , M C H , Rennings , A M J , Evers , D , Kerkhoffs , J-L , Masclee , A & Koek , G H 2021 , ' A predictive model for estimating the number of erythrocytapheresis or phlebotomy treatments for patients with naïve hereditary hemochromatosis ' , Journal of Clinical Apheresis , vol. 36 , no. 3 , pp. 340-347 . https://doi.org/10.1002/jca.21867

مصطلحات موضوعية: erythrocytapheresis, hereditary hemochromatosis, phlebotomy, prediction rule, THERAPEUTIC ERYTHROCYTAPHERESIS, IRON DEPLETION, DIAGNOSIS, ERYTHROPOIETIN, GUIDELINE, APHERESIS, DISEASE, INDEX

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/8a4541ff-62e7-46e7-8eaf-d260a9da0f28
https://doi.org/10.1002/jca.21867

المؤلفون: Rohrich, Daphne C., van de Wetering, Eline H. M., Rennings, Alexander J., Arts, Elke E., Meek, Inger L., den Broeder, Alfons A., Fransen, Jaap, Popa, Calin D.

المصدر: Arthritis Research & Therapy ; volume 23, issue 1 ; ISSN 1478-6362

الاتاحة: http://dx.doi.org/10.1186/s13075-020-02384-9
http://link.springer.com/content/pdf/10.1186/s13075-020-02384-9.pdf
http://link.springer.com/article/10.1186/s13075-020-02384-9/fulltext.html

المؤلفون: Garrelfs, Mark R., Takada, Sanami, Kamsteeg, Erik-Jan, Pegge, Sjoert, Mancini, Grazia, Engelen, Marc, van de Warrenburg, Bart, Rennings, Alexander, van Gaalen, Judith, Peters, Ivo, Weemaes, Corry, van der Burg, Mirjam, Willemsen, Michèl A.

المصدر: Pediatric Neurology ; volume 113, page 26-32 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2020.07.014
https://api.elsevier.com/content/article/PII:S0887899420302708?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899420302708?httpAccept=text/plain

المؤلفون: Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G. J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G. M., Rennings, Alexander J., Schielen, Peter J. C. I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J. A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke

المصدر: Bleeker , J C , Kok , I L , Ferdinandusse , S , van der Pol , W L , Cuppen , I , Bosch , A M , Langeveld , M , Derks , T G J , Williams , M , de Vries , M , Mulder , M F , Gozalbo , E R , de Sain-van der Velden , M G M , Rennings , A J , Schielen , P J C I , Dekkers , E , Houtkooper , R H , Waterham , H R , Pras-Raves , M L , ....

الاتاحة: https://research.vumc.nl/en/publications/0c965b3b-5dc2-4478-bb5b-cd9fac3bcd77
https://doi.org/10.1002/jimd.12075
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85064015724&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/30761551

المؤلفون: Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, Swinkels, Dorine W

المساهمون: MS Dermatologie/Allergologie, Haematologie patientenzorg, Child Health

مصطلحات موضوعية: Journal Article

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/343420

الاتاحة: https://dspace.library.uu.nl/handle/1874/343420

المؤلفون: Donker, Albertine E., Schaap, Charlotte C.M., Novotny, Vera M. J., Smeets, Roel, Peters, Tessa M. A., van den Heuvel, Bert L. P., Raphael, Martine F., Rijneveld, Anita W., Appel, Inge M., Vlot, Andre J., Versluijs, A. Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C.H., Rennings, Alexander J.M., van de Veerdonk, Frank L., Brons, Paul P.T., Bakkeren, Dirk L., Nijziel, Marten R., Vlasveld, L. Thom, Swinkels, Dorine W.

المصدر: American Journal of Hematology ; volume 91, issue 12 ; ISSN 0361-8609 1096-8652

الاتاحة: http://dx.doi.org/10.1002/ajh.24561
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajh.24561
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.24561
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajh.24561

المؤلفون: Hüllen, Andreas, Falkenstein, Kristina, Weigel, Corina, Huidekoper, Hidde, Naumann-Bartsch, Nora, Spenger, Johannes, Feichtinger, René G., Schaefers, Jacqueline, Frenz, Stephanie, Kotlarz, Daniel, Momen, Tooba, Khoshnevisan, Razieh, Riedhammer, Korbinian M., Santer, René, Herget, Theresia, Rennings, Alexander, Lefeber, Dirk J., Mayr, Johannes A., Thiel, Christian, Wortmann, Saskia B.

المصدر: Hüllen , A , Falkenstein , K , Weigel , C , Huidekoper , H , Naumann-Bartsch , N , Spenger , J , Feichtinger , R G , Schaefers , J , Frenz , S , Kotlarz , D , Momen , T , Khoshnevisan , R , Riedhammer , K M , Santer , R , Herget , T , Rennings , A , Lefeber , D J , Mayr , J A , Thiel , C & Wortmann , S B 2021 , ' Congenital disorders of glycosylation with defective fucosylation ' , Journal of Inherited ....

Relation: https://pure.eur.nl/en/publications/8e39d1e0-2871-4069-b756-a36f46855a32

الاتاحة: https://pure.eur.nl/en/publications/8e39d1e0-2871-4069-b756-a36f46855a32
https://doi.org/10.1002/jimd.12426
http://www.scopus.com/inward/record.url?scp=85114939467&partnerID=8YFLogxK

المؤلفون: Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Ficicioglu, Can, Forny, Patrick, García Jiménez, María Concepción, Gaspar, Ana, González‐Lamuño Leguina, Domingo, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C.H., Ješina, Pavel, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Muačević‐Katanec, Diana, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Pedrón‐Giner, Consuelo, Peña Quintana, Luis, Porras‐Hurtado, Gloria L., Fraile, Pilar Quijada, Redonnet‐Vernhet, Isabelle, Rennings, Alexander J.M., Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V.D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina M., Sykut‐Cegielska, Jolanta, Terry, Allyson, Tran, Christel, Miñana, Isidro Vitoria, Vives‐Piñera, Inmaculada, Williams, Monique, Zeman, Jiří, Zielonka, Matthias

المساهمون: 6603266503, BU-MED

المصدر: Journal of Inherited Metabolic Disease [ISSN 0141-8955], v. 44(3), p. 677-692, (Mayo 2021)

مصطلحات موضوعية: 32 Ciencias médicas, 320503 Gastroenterología, 3207 Patología, Homocystinuria, Patient registry, Natural history, Methionine, Thromboembolism, Developmentaldelay

Relation: Journal of Inherited Metabolic Disease; 44; http://hdl.handle.net/10553/106862; Sí

الاتاحة: http://hdl.handle.net/10553/106862
https://doi.org/10.1002/jimd.12338

المؤلفون: Rennings, Alexander J., Meijer, Patrick, van Uden, Dominique J., Tack, Cees J., Smits, Paul, Boerman, Otto C., Oyen, Wim J., Rongen, Gerard A.

مصطلحات موضوعية: CARDIOVASCULAR FLASHLIGHTS

وصف الملف: text/html

Relation: http://eurheartj.oxfordjournals.org/cgi/content/short/31/8/983; http://dx.doi.org/10.1093/eurheartj/ehp562

الاتاحة: http://eurheartj.oxfordjournals.org/cgi/content/short/31/8/983
https://doi.org/10.1093/eurheartj/ehp562

المؤلفون: Ferreira, Elise A., Veenvliet, Annemarijne R.J., Engelke, Udo F.H., Kluijtmans, Leo A.J., Huigen, Marleen C.D.G., Hoegen, Brechtje, de Boer, Lonneke, de Vries, Maaike C., van Bon, Bregje W., Leenders, Erika, Cornelissen, Elisabeth A.M., Haaxma, Charlotte A., Schieving, Jolanda H., Rubio-Gozalbo, M. Estela, Körver-Keularts, Irene M.L.W., Marten, Lara M., Diegmann, Susann, Mourmans, Jeroen, Rennings, Alexander J.M., van Karnebeek, Clara D.M., Rodenburg, Richard J., Coene, Karlien L.M.

المصدر: Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p125-134, 10p

المؤلفون: Bleeker, Jeannette C, Kok, Irene L, Ferdinandusse, Sacha, van der Pol, W Ludo, Cuppen, Inge, Bosch, Annet M, Langeveld, Mirjam, Derks, Terry G J, Williams, Monique, de Vries, Maaike, Mulder, Margot F, Rubio Gozalbo, Estela, van der Velden, Monique G M de Sain, Rennings, Alexander J, Schielen, Peter J C I, Dekkers, Eugenie, Houtkooper, Riekelt H, Waterham, Hans R, Pras-Raves, Mia L, Wanders, Ronald J A, van Hasselt, Peter M, Schoenmakers, Marja, Wijburg, Frits A, Visser, Gepke

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Inherited Metabolic Disease, 42(3), 414-423. SPRINGER

مصطلحات موضوعية: hypoglycemia, newborn screening, very-long-chain acyl-CoA dehydrogenase deficiency, embryonic structures, food and beverages, cardiomyopathy, fatty acid oxidation, myopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6bdfd61fbc425e15097578ce6d5efad9
https://research.rug.nl/en/publications/3e3710a1-135d-40d0-9acb-9bc1b434a96e

المؤلفون: van Raaij, Sanne E. G., Rennings, Alexander J., Biemond, Bart J., Schols, Saskia E. M., Wiegerinck, Erwin T. G., Roelofs, Hennie M. J., Hoorn, Ewout J., Walsh, Stephen B., Nijenhuis, Tom, Swinkels, Dorine W., van Swelm, Rachel P. L.

المصدر: van Raaij , S E G , Rennings , A J , Biemond , B J , Schols , S E M , Wiegerinck , E T G , Roelofs , H M J , Hoorn , E J , Walsh , S B , Nijenhuis , T , Swinkels , D W & van Swelm , R P L 2019 , ' Iron handling by the human kidney: Glomerular filtration and tubular reabsorption both contribute to urinary iron excretion ' , American Journal of Physiology - Renal Physiology , vol. 316 , no. 3 , pp. F606-F614 . ....

الاتاحة: https://research.vumc.nl/en/publications/d7d0000f-62a9-411b-92f7-3d88e55eda16
https://doi.org/10.1152/ajprenal.00425.2018
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062592909&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/30623722

المؤلفون: Rombout‐Sestrienkova, Eva, Winkens, Bjorn, Kraaij, Marian, Deursen, Cees Th. B. M., Janssen, Mirian C. H., Rennings, Alexander M. J., Evers, Dorothea, Kerkhoffs, Jean‐Louis, Masclee, Ad, Koek, Ger H.

المصدر: Journal of Clinical Apheresis; Jun2021, Vol. 36 Issue 3, p340-347, 8p

مصطلحات موضوعية: PREDICTION models, HEMOCHROMATOSIS, MULTIPLE regression analysis, PHLEBOTOMY, MEDICAL personnel

المؤلفون: Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke

URL: https://doi.org/10.1002/jimd.12075
http://hdl.handle.net/1874/387908
https://dspace.library.uu.nl/handle/1874/387908
http://www.scopus.com/inward/record.url?scp=85064015724&partnerID=8YFLogxK
0141-8955
Journal of Inherited Metabolic Disease
42
3
414
423

المؤلفون: Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G. J., Williams, Monique, de Vries, Maaike, Mulder, Margot F, Gozalbo, Estela Rubio, de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke

المصدر: SSRN Electronic Journal ; ISSN 1556-5068

الاتاحة: http://dx.doi.org/10.2139/ssrn.3258660