المؤلفون: Bode, SFN, Straub, C, Dürkop, A, Peters, S, Spiekerkötter, U, Heinzmann, A

المصدر: Jahrestagung der Gesellschaft für Medizinische Ausbildung (GMA); 20210916-20210917; Zürich, Schweiz; DOCV13-03 /20210915/

مصطلحات موضوعية: ddc: 610

Relation: http://dx.doi.org/10.3205/21gma050; http://nbn-resolving.de/urn:nbn:de:0183-21gma0508; http://www.egms.de/en/meetings/gma2021/21gma050.shtml

الاتاحة: https://doi.org/10.3205/21gma050
http://nbn-resolving.de/urn:nbn:de:0183-21gma0508
http://www.egms.de/en/meetings/gma2021/21gma050.shtml

المؤلفون: Grünert, S. C., Schumann, A., Freisinger, P., Rosenbaum-Fabian, S., Schmidts, M., Mueller, A. J., Beck-Wödl, S., Haack, T. B., Schneider, H., Fuchs, H., Teufel, U., Gramer, G., Hannibal, L., Spiekerkoetter, U.

المصدر: BMC Pediatrics ; volume 20, issue 1 ; ISSN 1471-2431

الاتاحة: http://dx.doi.org/10.1186/s12887-020-02409-x
http://link.springer.com/content/pdf/10.1186/s12887-020-02409-x.pdf
http://link.springer.com/article/10.1186/s12887-020-02409-x/fulltext.html

المؤلفون: Heard, J. M., Bellettato, C., Lingen, C., Scarpa, M., Debray, F. G., Nassogne, M. C., van Coster, R., De Meirleir, L., Eyskens, F., Morava, E., Baric, I., Kozich, V., Lund, A. M., Germain, D., Belmatoug, N., Guffon, N., Labrune, P., Gouya, L., De Lonlay, P., Schiff, M., Dobbelaere, D., Chabrol, B., Ploeckinger, U., Das, A. M., Spiekerkoetter, U., Rutsch, F., Mohnike, K., Hahn, A., Kolker, S., Ullrich, K., Hennermann, J., Balogh, I., Bembi, B., Donati, M. A., Gasperini, S., Parenti, G., Salviati, A., Vici, C. D., Di Rocco, M., Cefalo, G., Burlina, A., Ceccarini, G., Federico, A., Van der Ploeg, A., Rubio-Gozalbo, M. E., Van Spronsen, F., Visser, G., Bosch, A., Tangeraas, T., Sanderberg, S., Kiec-Wilk, B., Gaspar, Amsm, Martins, E., Silva, Emfr, Matos, Lmdfd, Azevedo, O., Tansek, M. Z., Couce Pico, María Luz, Cazorla, A. G., Azuara, L. A. E., Del Toro-Riera, M., Silva, M. T. G., Lajic, S., Darin, N., Deegan, P., Vijay, S., Chronopolou, E., Jones, S., Chakrapani, A., Hiwot, T.

المساهمون: Metab E. R. N. Collaboration Group

مصطلحات موضوعية: Humans, Quality of Life, humanos, calidad de vida, CHUS

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542047/pdf/13023_2019_Article_1091.pdf; https://www.ncbi.nlm.nih.gov/pubmed/31142374; http://hdl.handle.net/20.500.11940/15651; 31264

الاتاحة: https://hdl.handle.net/20.500.11940/15651
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542047/pdf/13023_2019_Article_1091.pdf
https://www.ncbi.nlm.nih.gov/pubmed/31142374
https://doi.org/10.1186/s13023-019-1091-8

المؤلفون: Peeters, R., Cuenca-Escalona, J., Zaal, E.A., Hoekstra, A.T., Balvert, A.C.G., Vidal-Manrique, M., Blomberg, N., Deventer, S.J. van, Stienstra, R., Jellusova, J., Giera, M., Hannibal, L., Spiekerkoetter, U., Beest, M. ter, Berkers, C.R., Spriel, A.B. van

المصدر: Nature Communications

وصف الملف: application/pdf

Relation: lumc-id: 176402602; https://hdl.handle.net/1887/3513383

الاتاحة: https://hdl.handle.net/1887/3513383
https://doi.org/10.1038/s41467-022-33138-7

المؤلفون: Hollak, C.E.M., Biegstraaten, M., Baumgartner, M.R., Belmatoug, N., Bembi, B., Bosch, A., Brouwers, M., Dekker, H., Dobbelaere, D., Engelen, M., Groenendijk, M.C., Lachmann, R., Langendonk, J.G., Langeveld, M., Linthorst, G., Morava, E., Poll-The, B.T., Rahman, S., Rubio-Gozalbo, M.E., Spiekerkoetter, U., Treacy, E., Wanders, R., Zschocke, J., Hagendijk, R.

المصدر: Hollak , C E M , Biegstraaten , M , Baumgartner , M R , Belmatoug , N , Bembi , B , Bosch , A , Brouwers , M , Dekker , H , Dobbelaere , D , Engelen , M , Groenendijk , M C , Lachmann , R , Langendonk , J G , Langeveld , M , Linthorst , G , Morava , E , Poll-The , B T , Rahman , S , Rubio-Gozalbo , M E , Spiekerkoetter , U , Treacy , E , Wanders , R , Zschocke , J & ....

وصف الملف: application/pdf

Relation: https://dare.uva.nl/personal/pure/en/publications/position-statement-on-the-role-of-healthcare-professionals-patient-organizations-and-industry-in-european-reference-networks(26d4f6fd-8f91-4c8f-91e3-0deb756c0112).html

الاتاحة: https://dare.uva.nl/personal/pure/en/publications/position-statement-on-the-role-of-healthcare-professionals-patient-organizations-and-industry-in-european-reference-networks(26d4f6fd-8f91-4c8f-91e3-0deb756c0112).html
https://doi.org/10.1186/s13023-016-0383-5
https://pure.uva.nl/ws/files/2680856/169156_role_of_healthcare_professionals_patient_organizations_and_industry_in_European_Reference_Networks.pdf

المؤلفون: Hollak, CE, Biegstraaten, M, Baumgartner, MR, Belmatoug, N, Bembi, B, Bosch, A, Brouwers, M, Dekker, H, Dobbelaere, D, Engelen, M, Groenendijk, MC, Lachmann, R, Langendonk, JG, Langeveld, M, Linthorst, G, Morava, E, Poll-The, BT, Rahman, S, Rubio-Gozalbo, ME, Spiekerkoetter, U, Treacy, E, Wanders, R, Zschocke, J, Hagendijk, R

المصدر: Orphanet Journal of Rare Diseases , 11 , Article 7. (2016)

مصطلحات موضوعية: European Reference Network, Rare diseases, Orphan diseases, Industry, Conflict of interest

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1482971/1/Rahman_Position%20statement%20on%20the%20role%20of%20healthcare%20professionals%252C%20patient%20organizations%20and%20industry%20in%20European%20Reference%20Networks.pdf; https://discovery.ucl.ac.uk/id/eprint/1482971/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1482971/1/Rahman_Position%20statement%20on%20the%20role%20of%20healthcare%20professionals%252C%20patient%20organizations%20and%20industry%20in%20European%20Reference%20Networks.pdf
https://discovery.ucl.ac.uk/id/eprint/1482971/

المؤلفون: Friedrich, S, Langer, T, Spiekerkötter, U, Heinzmann, A, Bode, SF

المصدر: Jahrestagung der Gesellschaft für Medizinische Ausbildung (GMA); 20210916-20210917; Zürich, Schweiz; DOCP119 /20210915/

مصطلحات موضوعية: ddc: 610, Medicine and health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c866cc163c4dcd8022e16ee416b6a9ad

المؤلفون: Grünert, Sarah C., Wehrle, A., Villavicencio-Lorini, P., Lausch, E., Schwab, K. O., Tucci, S., Spiekerkoetter, U.

المصدر: BMC medical genetics. 16 (2015), 56, DOI 10.1186/s12881-015-0199-5, ISSN: 1471-2350

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/12528

الاتاحة: https://freidok.uni-freiburg.de/data/12528
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-125281
https://doi.org/10.1186/s12881-015-0199-5
https://freidok.uni-freiburg.de/dnb/download/12528

المؤلفون: Grünert, S., Foster, W., Schumann, A., Allan, L., Pontes, C., Roloff, S., Weinhold, N., Yue, W., AlAsmari, A., Obaid, O., Faqeih, E., Stübbe, L., Yamamoto, R., Gemperle-Britschgi, C., Walter, M., Spiekerkoetter, U., Mackinnon, S., Sass, J.

المصدر: Monatsschrift Kinderheilkunde ; ISSN 0026-9298

مصطلحات موضوعية: ddc:610

Relation: https://pub.h-brs.de/frontdoor/index/index/docId/5847

الاتاحة: https://pub.h-brs.de/frontdoor/index/index/docId/5847

المؤلفون: Schumann, A., Schaller, K., Belche, V., Cybulla, M., Grünert, S., Moers, N., Sass, J., Kaech, A., Hannibal, L., Spiekerkötter, U.

المصدر: Monatsschrift Kinderheilkunde ; ISSN 0026-9298

مصطلحات موضوعية: ddc:610

Relation: https://pub.h-brs.de/frontdoor/index/index/docId/5845

الاتاحة: https://pub.h-brs.de/frontdoor/index/index/docId/5845

المؤلفون: Ruegger, CM, Lindner, M, Ballhausen, D, Baumgartner, MR, Beblo, S, Das, A, Gautschi, M, Glahn, EM, Grunert, SC, Hennermann, J, Hochuli, M, Huemer, M, Karall, D, Kolker, S, Lachmann, RH, Lotz-Havla, A, Moslinger, D, Nuoffer, JM, Plecko, B, Rutsch, F, Santer, R, Spiekerkoetter, U, Staufner, C, Stricker, T, Wijburg, FA, Williams, Monique, Burgard, P, Haberle, J

المصدر: Ruegger , CM , Lindner , M , Ballhausen , D , Baumgartner , MR , Beblo , S , Das , A , Gautschi , M , Glahn , EM , Grunert , SC , Hennermann , J , Hochuli , M , Huemer , M , Karall , D , Kolker , S , Lachmann , RH , Lotz-Havla , A , Moslinger , D , Nuoffer , JM , Plecko , B , Rutsch , F , Santer , R , Spiekerkoetter , U , Staufner , C , Stricker , T , Wijburg , FA ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM035404A, name=EMC MM-03-54-04-A

وصف الملف: application/pdf

Relation: https://pure.eur.nl/en/publications/4b2381b3-9b3d-4596-ac55-7977be7dec1f

الاتاحة: https://pure.eur.nl/en/publications/4b2381b3-9b3d-4596-ac55-7977be7dec1f
https://doi.org/10.1007/s10545-013-9624-0
https://pure.eur.nl/ws/files/47544880/art-3A10.1007-2Fs10545-013-9624-0.pdf
http://hdl.handle.net/1765/54900

المؤلفون: Grünert, Sarah, Wehrle, A., Villavicencio-Lorini, P., Lausch, E., Vetter, B., Schwab, K., Tucci, S., Spiekerkoetter, U.

مصطلحات موضوعية: ACADM, Missplicing, Newborn screening, False negative

Relation: http://www.biomedcentral.com/1471-2350/16/56

الاتاحة: http://www.biomedcentral.com/1471-2350/16/56

المؤلفون: Schilling, J., Spiekerkoetter, U., Wohlrab, U., Wendel, U., Seissler, J.

المصدر: Scandinavian Journal of Immunology ; volume 61, issue 2, page 207-212 ; ISSN 0300-9475 1365-3083

الاتاحة: http://dx.doi.org/10.1111/j.0300-9475.2005.01549.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0300-9475.2005.01549.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0300-9475.2005.01549.x

المؤلفون: Heying, R, Nürnberger, W, Spiekerkötter, U, Göbel, U

المصدر: Bone Marrow Transplantation ; volume 21, issue 9, page 947-949 ; ISSN 0268-3369 1476-5365

الاتاحة: http://dx.doi.org/10.1038/sj.bmt.1701211
https://www.nature.com/articles/1701211.pdf
https://www.nature.com/articles/1701211

المؤلفون: Wehbe, Zeinab, Alatibi, Khaled, Jellusova, Julia, Spiekerkoetter, U., Tucci, Sara

المصدر: Biochimica et biophysica acta (BBA) - molecular and cell biology of lipids. - 1864, 11 (2019) , 1591-1605, ISSN: 1388-1981

Relation: https://freidok.uni-freiburg.de/data/151094

الاتاحة: https://freidok.uni-freiburg.de/data/151094
https://doi.org/10.1016/j.bbalip.2019.08.001

المؤلفون: Li, Y., Sekula, P., Wuttke, M., Wahrheit, J., Hausknecht, B., Schultheiss, U. T., Gronwald, Wolfram, Schlosser, P., Tucci, S., Ekici, A. B., Spiekerkoetter, U., Kronenberg, F., Eckardt, K. U., Oefner, Peter J., Köttgen, Anna

مصطلحات موضوعية: 610 Medizin, ddc:610

Relation: Li, Y., Sekula, P. , Wuttke, M., Wahrheit, J., Hausknecht, B., Schultheiss, U. T., Gronwald, Wolfram, Schlosser, P. , Tucci, S., Ekici, A. B. , Spiekerkoetter, U., Kronenberg, F. , Eckardt, K. U., Oefner, Peter J. und Köttgen, Anna (2018) Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. J. Am. Soc. Nephrol.

الاتاحة: https://epub.uni-regensburg.de/36945/
http://jasn.asnjournals.org/content/early/2018/03/14/ASN.2017101099.long

المؤلفون: Spiekerkötter, U.

المصدر: Pädiatrie ; page 1-20 ; ISBN 9783642546716

الاتاحة: http://dx.doi.org/10.1007/978-3-642-54671-6_75-1
https://link.springer.com/content/pdf/10.1007/978-3-642-54671-6_75-1

المؤلفون: LINDNER, M., SANTER, R., SPIEKERKÖTTER, U., ZSCHOCKE, J.

المصدر: Leitlinien Kinder- und Jugendmedizin ; page C1.1-C1.15 ; ISBN 9783437220616

الاتاحة: http://dx.doi.org/10.1016/b978-3-437-22061-6.50372-4
https://api.elsevier.com/content/article/PII:B9783437220616503724?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9783437220616503724?httpAccept=text/plain

المؤلفون: Karall, D., Meisinger, B., Grissenauer, G., Scholl-Bürgi, S., Heinz-Erian, P., Lagler, Florian, Sass, J. O., Grünert, S., Nussbaumer, E.-M., Schwab, K. O., Mönch, E., Hofer, A., Haberlandt, E., Oppl, V., Sperl, W., Spiekerkötter, U., Baumgartner Sigl, S., Stöckler-Ipsiroglu, S.

المصدر: Klinische Ernährungsmedizin

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::0cc690ccb439e3e290a25910d53d14ee
http://europepmc.org/articles/PMC7121950

المؤلفون: Ozturk, YEŞİM, Niinikoski, H., Bonnemains, C., Marioli, S., Barat, P., De Parscau, L., Meyer, M., Bedu, A., Güttler, F., Pazdirkova, R., Prochazkova, D., Sarnavka, V., Baric, I., Toromanovic, A., Tahirovic, H., Scholl-Bürgi, S., Karall, D., Van Spronsen, F.J., Trefz, Friedrich K., Giovannini, Marcello, Feillet, François, Demirkol, M., Bélanger-Quintana, A., Blau, Nenad, Aydin, H., Coskun, T., Dursun, A., Kalkanoglu, S.H.S., Tokatli, A., Eminoglu, F.T., Hasanoglu, A., Baumgartner, M., Onenli-Mungan, N., Yüksel, B., Gil-Ortega, D., Odent, S., Eyer, D., Labarthe, F., Hennermann, J.B., Mönch, E., Stolz, S., Spiekerkötter, U., Knerr, I., Schwab, K.O., Kreuder, J., Ullrich, K., Das, A.M., Burgard, P., Kon-Stantopoulou, V., Lindner, M., Müller, E., Haase, C., Beblo, S., Weigel, J., Plötzch, S., Muntau, A., Weglage, J., Marquardt, J., Scheible, D., Clemens, P., Schulpis, K.H., Papadia, F., Salardi, S., Meli, C., Donati, M.A., Procopio, E., Cerone, R., Riva, E., Giovannini, M., Paci, S., Carbone, M.T., Burlina, A., Lapichino, L., Cotugno, G., Leuzzi, V., Rubio-Gozalbo, E., De Vries, M., De Klerk, J.B.C., Walter, J., Cleary, M.A., Schwann, B., Robinson, P., Galloway, P., Hendriksz, C.J., Iversen, K., Wiig, I., Jørgensen, J., Milanowski, A., Nowacka, M., Djordjevic, M., Laketa, C., Gutiérrez-Junquera, C., Márquez-Armenteros, A., Vilaseca Busca, M.A., Campistol Plana, J., Peña-Quintana, L., Valverde, F.S., Gonzalez-Lamuno, D., Couce-Pico, M.L., Dalmau Serra, J., Baldellou-Vazquez, A., Garcia-Jimenez, M.C., Papadopoulou, D., Almm, J., Okur, I., Süheyl, E.F., Tumer, L., Aydogdu, S., Aktuglu-Zeybek, A.C., Cansever, S., Arslan, N., Erdur, B., Coker, M., Kalkan, U.S., Hizel-Bülbül, S., Tanzer, F., MacDonald, Anita, MacDonald, A., Chakrapani, A., Gomez, A.R., Fouilhoux, A., Chabrol, B., Wagner, K., Billette De Villemeur, T., De Lonlay-Debeney, P., Ogier De Baulny, H., Halldin Stenlid, M., Nuoffer, J.M., Rohrbach, M.

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Kindergeneeskunde, RS: GROW - School for Oncology and Reproduction, University of Zurich, Blau, N

المصدر: Molecular Genetics and Metabolism, 99(2), 109-115. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 99(2), 109-115. Academic Press Inc.

مصطلحات موضوعية: Dieticians, Pediatrics, 1303 Biochemistry, phenylalanine, Endocrinology, Diabetes and Metabolism, Prevalence, CHILDREN, Biochemistry, RECOMMENDATIONS, Endocrinology, Hyperphenylalaninemia, DIETARY CONTROL, Phenylketonurias, Surveys and Questionnaires, Epidemiology, Registries, guidelines, BH4, 1310 Endocrinology, Europe, 2712 Endocrinology, Diabetes and Metabolism, Child, Preschool, 10076 Center for Integrative Human Physiology, CONCURRENT PHENYLALANINE LEVELS, PKU, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Health Planning Guidelines, NEUTRAL AMINO-ACIDS, MEDLINE, 610 Medicine & health, Survey result, 1311 Genetics, Age groups, 1312 Molecular Biology, Genetics, medicine, Humans, Molecular Biology, hyperphenylalaninemia, business.industry, Infant, Newborn, nutritional and metabolic diseases, bh4, diet, pku, Guideline, medicine.disease, TRANSPORT, phenylketonuria, European countries, tetrahydrobiopterin, 10036 Medical Clinic, Health Care Surveys, 570 Life sciences, biology, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8d2bb93cf1708aac8eb605a3836b0e
https://doi.org/10.1016/j.ymgme.2009.09.005