المؤلفون: Tas, Michelle L, Nagtegaal, Michelle, Kraal, Kathelijne C J M, Tytgat, Godelieve A M, Abeling, Nico G G M, Koster, Jan, Pluijm, Saskia M F, Zwaan, C Michel, de Keizer, Bart, Molenaar, Jan J, van Noesel, Max M

المساهمون: UU BETA RESEARCH

مصطلحات موضوعية: Cohort Studies, Disease Progression, Female, Humans, Infant, Newborn, Male, Neoplasm Regression, Spontaneous/pathology, Neuroblastoma/pathology, Retrospective Studies, Risk Factors

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/412181

الاتاحة: https://dspace.library.uu.nl/handle/1874/412181

المؤلفون: Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, Andre B. P.

المصدر: Journal of Inherited Metabolic Disease. 37(5):801-812

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-234170
https://uu.diva-portal.org/smash/get/diva2:755826/FULLTEXT01.pdf

المؤلفون: van Kuilenburg, André B P, Dobritzsch, Doreen, 1972, Meijer, Judith, Krumpel, Michael, Selim, Laila A, Rashed, Mohamed S, Assmann, Birgit, Meinsma, Rutger, Lohkamp, Bernhard, Ito, Tetsuya, Abeling, Nico G G M, Saito, Kayoko, Eto, Kaoru, Smitka, Martin, Engvall, Martin, Zhang, Chunhua, Xu, Wang, Zoetekouw, Lida, Hennekam, Raoul C M

المصدر: Biochimica et Biophysica Acta. 1822(7):1096-108

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-214417
https://doi.org/10.1016/j.bbadis.2012.04.001

المؤلفون: van Karnebeek, Clara D. M., Scheper, Frederike Y., Abeling, Nico G.

المصدر: American Journal on Mental Retardation. 2005 110(4):253-267.

Peer Reviewed: Y

Page Count: 15

Descriptors: Etiology, Mental Retardation, Children, Clinical Diagnosis, Diagnostic Tests, Physical Examinations, Interdisciplinary Approach

المؤلفون: Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B. P.

المصدر: Journal of Inherited Metabolic Disease ; volume 37, issue 6, page 1023-1023 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-014-9754-z
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-014-9754-z

المؤلفون: Bosch Annet M, Stroek Kevin, Abeling Nico G, Waterham Hans R, IJlst Lodewijk, Wanders Ronald JA

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 83 (2012)

مصطلحات موضوعية: Brown-Vialetto-Van Laere syndrome, Fazio Londe syndrome, Riboflavin transporter, Riboflavin supplementation, Medicine

Relation: http://www.ojrd.com/content/7/1/83; https://doaj.org/toc/1750-1172; https://doaj.org/article/5183086689b04fb680be375e9ae0c2d5

الاتاحة: https://doi.org/10.1186/1750-1172-7-83
https://doaj.org/article/5183086689b04fb680be375e9ae0c2d5

المؤلفون: Hagebeuk, Eveline E. O., Koelman, Johannes H. T. M., Duran, Marinus, Abeling, Nico G., Vyth, Arno, Poll-The, Bwee-Tien

المصدر: Journal of Child Neurology ; volume 26, issue 6, page 718-723 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/0883073810390037
https://journals.sagepub.com/doi/pdf/10.1177/0883073810390037

المؤلفون: Bosch, Annet M., Abeling, Nico G. G. M., IJlst, Lodewijk, Knoester, Hennie, van der Pol, W. Ludo, Stroomer, Alida E. M., Wanders, Ronald J., Visser, Gepke, Wijburg, Frits A., Duran, Marinus, Waterham, Hans R.

المصدر: Journal of Inherited Metabolic Disease ; volume 34, issue 1, page 159-164 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-010-9242-z
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-010-9242-z

المؤلفون: Assies, Johanna, Pouwer, François, Lok, Anja, Mocking, Roel J. T., Bockting, Claudi L. H., Visser, Ieke, Abeling, Nico G. G. M., Duran, Marinus, Schene, Aart H.

المساهمون: Bush, Ashley I.

المصدر: PLoS ONE ; volume 5, issue 5, page e10635 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0010635
http://dx.plos.org/10.1371/journal.pone.0010635

المؤلفون: Assmann, Birgit E., Van Kuilenburg, Andre B. P., Distelmaier, Felix, Abeling, Nico G. G. M., Rosenbaum, Thorsten, Schaper, Jörg, Duran, Marinus, Mayatepek, Ertan

المصدر: Epilepsia ; volume 47, issue 1, page 215-217 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/j.1528-1167.2006.00391.x
http://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1167.2006.00391.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1528-1167.2006.00391.x

المؤلفون: Tas, Michelle L, Nagtegaal, Michelle, Kraal, Kathelijne C J M, Tytgat, Godelieve A M, Abeling, Nico G G M, Koster, Jan, Pluijm, Saskia M F, Zwaan, C Michel, de Keizer, Bart, Molenaar, Jan J, van Noesel, Max M, UU BETA RESEARCH

المساهمون: Pediatrics, Graduate School, ARD - Amsterdam Reproduction and Development, AGEM - Endocrinology, metabolism and nutrition, AGEM - Digestive immunity, CCA - Cancer Treatment and Quality of Life, Paediatric Oncology, Laboratory Genetic Metabolic Diseases, UU BETA RESEARCH

المصدر: Pediatric Blood and Cancer, 67. Wiley-Liss Inc.
Pediatric blood & cancer. Wiley-Liss Inc.
Pediatric Blood & Cancer, 67(4). Wiley-Liss Inc.

مصطلحات موضوعية: Male, Spontaneous/pathology, medicine.medical_specialty, Neuroblastoma/pathology, Gastroenterology, Cohort Studies, Excretion, Neuroblastoma, 03 medical and health sciences, Neoplasm Regression, Spontaneous/pathology, 0302 clinical medicine, Risk Factors, Internal medicine, medicine, Humans, Stage (cooking), Retrospective Studies, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Hematology, Newborn, medicine.disease, Regression, Oncology, Neoplasm Regression, Spontaneous, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Stage 4S Neuroblastoma, Neoplasm Regression, Female, business, Progressive disease, 030215 immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd77bcbbe65d58db17cbeac88a5bf2d6
https://doi.org/10.1002/pbc.28061

المؤلفون: UU BETA RESEARCH, Tas, Michelle L, Nagtegaal, Michelle, Kraal, Kathelijne C J M, Tytgat, Godelieve A M, Abeling, Nico G G M, Koster, Jan, Pluijm, Saskia M F, Zwaan, C Michel, de Keizer, Bart, Molenaar, Jan J, van Noesel, Max M

URL: https://doi.org/10.1002/pbc.28061
http://hdl.handle.net/1874/412181
1545-5009
Pediatric Blood & Cancer
67
4
e28061

المؤلفون: LEUZZI, Vincenzo, MASTRANGELO, Mario, Polizzi, Agata, ARTIOLA, CRISTIANA, van Kuilenburg, André B. P, CARDUCCI, Carla, Ruggieri, Martino, Barone, Rita, Tavazzi, Barbara, Abeling, Nico G. G. M, Zoetekouw, Lida, Sofia, Vito, Zappia, Mario, CARDUCCI, Claudia

المساهمون: Leuzzi, Vincenzo, Mastrangelo, Mario, Polizzi, Agata, Artiola, Cristiana, van Kuilenburg, André B. P, Carducci, Carla, Ruggieri, Martino, Barone, Rita, Tavazzi, Barbara, Abeling, Nico G. G. M, Zoetekouw, Lida, Sofia, Vito, Zappia, Mario, Carducci, Claudia

مصطلحات موضوعية: aromatic amino acid decarboxylase

Relation: info:eu-repo/semantics/altIdentifier/pmid/24788355; volume:15; firstpage:39; lastpage:45; numberofpages:7; journal:JIMD REPORTS; http://hdl.handle.net/11573/785402; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85009753904

الاتاحة: http://hdl.handle.net/11573/785402
https://doi.org/10.1007/8904_2014_295

المؤلفون: Verly, Iedan R N, van Kuilenburg, André B P, Abeling, Nico G G M, Goorden, Susan M I, Fiocco, Marta, Vaz, Frédéric M, van Noesel, Max M, Zwaan, C Michel, Kaspers, GertJan L, Merks, Johannes H M, Caron, Huib N, Tytgat, Godelieve A M

المصدر: Verly , I R N , van Kuilenburg , A B P , Abeling , N G G M , Goorden , S M I , Fiocco , M , Vaz , F M , van Noesel , M M , Zwaan , C M , Kaspers , G L , Merks , J H M , Caron , H N & Tytgat , G A M 2017 , ' Catecholamines profiles at diagnosis : Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients ' , European Journal of Cancer , vol. 72 , pp. ....

الاتاحة: https://research.vumc.nl/en/publications/a27daac9-84a3-4cfb-b8ed-056443c27fbe
https://doi.org/10.1016/j.ejca.2016.12.002

المؤلفون: van Kuilenburg, André B P, Meijer, Judith, Dobritzsch, Doreen, 1972, Meinsma, Rutger, Duran, Marinus, Lohkamp, Bernhard, Zoetekouw, Lida, Abeling, Nico G G M, van Tinteren, Herman L G, Bosch, Annet M

المصدر: Molecular Genetics and Metabolism. 91(2):157-164

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-214432

المؤلفون: Peuscher, Rosanne, Dijsselhof, Monique E., Abeling, Nico G., Van Rijn, Margreet, Van Spronsen, Francjan J., Bosch, Annet M.

المصدر: JIMD Reports ; JIMD Reports - Case and Research Reports, 2012/2 ; page 127-130 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642280955 9783642280962

الاتاحة: http://dx.doi.org/10.1007/8904_2011_115
http://link.springer.com/content/pdf/10.1007/8904_2011_115

المؤلفون: Hagebeuk, Eveline E. O., Duran, Marinus, Abeling, Nico G. G. M., Vyth, Arno, Poll‐The, Bwee Tien

المصدر: Journal of Inherited Metabolic Disease ; volume 36, issue 6, page 967-972 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-013-9590-6
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-013-9590-6

المؤلفون: Vrouenraets, Saskia M E, Fux, Christoph A, Wit, Ferdinand W N M, Garcia, Evian Fernandez, Furrer, Hansjakob, Brinkman, Kees, Hoek, Frans J, Abeling, Nico G G M, Krediet, Ray T, Reiss, Peter, Prepare Study Group

المصدر: Vrouenraets, Saskia M E; Fux, Christoph A; Wit, Ferdinand W N M; Garcia, Evian Fernandez; Furrer, Hansjakob; Brinkman, Kees; Hoek, Frans J; Abeling, Nico G G M; Krediet, Ray T; Reiss, Peter; Prepare Study Group, (2011). Persistent decline in estimated but not measured glomerular filtration rate on tenofovir may reflect tubular rather than glomerular toxicity. AIDS, 25(17), pp. 2149-55. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1097/QAD.0b013e32834bba87

Relation: https://boris.unibe.ch/8253/

الاتاحة: https://boris.unibe.ch/8253/

المؤلفون: van Kuilenburg, André B. P., van Cruchten, Arno, Abeling, Nico G. G. M., Blau, Nenad, Duran, Marinus, Gibson, Michael K.

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases

المصدر: Laboratory Guide to the Methods in Biochemical Genetics, 725-739
STARTPAGE=725;ENDPAGE=739;TITLE=Laboratory Guide to the Methods in Biochemical Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::fa56c9037645e2123b8c17243abd2975
https://pure.amc.nl/en/publications/screening-for-disorders-of-purine-and-pyrimidine-metabolism-using-hplcelectrospray-tandem-mass-spectrometry(976b6fde-dfa9-49f4-a14c-23482277c4de).html

المؤلفون: van KUILENBURG, André B. P., STROOMER, Alida E. M., van LENTHE, Henk, ABELING, Nico G. G. M., van GENNIP, Albert H.

المصدر: Biochemical Journal ; volume 379, issue 1, page 119-124 ; ISSN 0264-6021 1470-8728

الاتاحة: http://dx.doi.org/10.1042/bj20031463
https://portlandpress.com/biochemj/article-pdf/379/1/119/713081/bj3790119.pdf