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: Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, Reintjes, Joris T. G., Roullet, Jean-Baptiste, Broekman, Sanne, de Vrieze, Erik, van Wijk, Erwin, Wamelink, Mirjam M. C., Artuch, Rafael, Barić, Ivo, Merx, Jona, Boltje, Thomas J., Martens, Jonathan, Willemsen, Michèl A. A. P., Verbeek, Marcel M., Wevers, Ron A., Gibson, K. Michael, Coene, Karlien L. M.

المصدر: Peters , T M A , Engelke , U F H , de Boer , S , Reintjes , J T G , Roullet , J-B , Broekman , S , de Vrieze , E , van Wijk , E , Wamelink , M M C , Artuch , R , Barić , I , Merx , J , Boltje , T J , Martens , J , Willemsen , M A A P , Verbeek , M M , Wevers , R A , Gibson , K M & Coene , K L M 2023 , ' Succinic ....

الاتاحة: https://research.vumc.nl/en/publications/6501a599-283b-4c85-a78c-3061188e1450
https://doi.org/10.1002/jimd.12657
http://www.scopus.com/inward/record.url?scp=85166420322&partnerID=8YFLogxK

المؤلفون: Peters, Tessa M A, Merx, Jona, Kooijman, Pieter C, Noga, Marek, de Boer, Siebolt, van Gemert, Loes A, Salden, Guido, Engelke, Udo F H, Lefeber, Dirk J, van Outersterp, Rianne E, Berden, Giel, Boltje, Thomas J, Artuch, Rafael, Pías-Peleteiro, Leticia, García-Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A, Verbeek, Marcel M, Coene, Karlien L M, Willemsen, Michèl A A P

المصدر: Peters, Tessa M A; Merx, Jona; Kooijman, Pieter C; Noga, Marek; de Boer, Siebolt; van Gemert, Loes A; Salden, Guido; Engelke, Udo F H; Lefeber, Dirk J; van Outersterp, Rianne E; Berden, Giel; Boltje, Thomas J; Artuch, Rafael; Pías-Peleteiro, Leticia; García-Cazorla, Ángeles; Barić, Ivo; Thöny, Beat; Oomens, Jos; Martens, Jonathan; Wevers, Ron A; Verbeek, Marcel M; Coene, Karlien L M; Willemsen, Michèl A A P (2023). Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit. Journal of Inherited Metabolic Disease, 46(1):66-75.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/253037/1/J_of_Inher_Metab_Disea___2022___Peters___Novel_cerebrospinal_fluid_biomarkers_of_glucose_transporter_type_1_deficiency.pdf; info:pmid/36088537; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/253037/
https://www.zora.uzh.ch/id/eprint/253037/1/J_of_Inher_Metab_Disea___2022___Peters___Novel_cerebrospinal_fluid_biomarkers_of_glucose_transporter_type_1_deficiency.pdf
https://doi.org/10.1002/jimd.12554

المؤلفون: Post, Merel A., de Wit, Isis, Zijlstra, Fokje S. M., Engelke, Udo F. H., van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito‐Lee, Joy, Lee, Beom Hee, Low, Karen J., Mallick, Andrew A., Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari‐Anne, Wortmann, Saskia B., Wessels, Hans J. C. T., Bärenfänger, Melissa, van Karnebeek, Clara D. M., Lefeber, Dirk J.

المساهمون: Eesti Teadusagentuur, RCH Foundation, Stichting Metakids

المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 2, page 313-325 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12588
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12588
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12588

المؤلفون: Houthuijs, Kas J., Berden, Giel, Engelke, Udo F. H., Gautam, Vasuk, Wishart, David S., Wevers, Ron A., Martens, Jonathan, Oomens, Jos

المساهمون: Stichting voor de Technische Wetenschappen, Canada Foundation for Innovation, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Analytical Chemistry ; volume 95, issue 23, page 8998-9005 ; ISSN 0003-2700 1520-6882

الاتاحة: http://dx.doi.org/10.1021/acs.analchem.3c01078
https://pubs.acs.org/doi/pdf/10.1021/acs.analchem.3c01078

المؤلفون: van Outersterp, Rianne E., Oosterhout, Jitse, Gebhardt, Christoph R., Berden, Giel, Engelke, Udo F. H., Wevers, Ron A., Cuyckens, Filip, Oomens, Jos, Martens, Jonathan

المساهمون: Stichting voor de Technische Wetenschappen, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Analytical Chemistry ; volume 95, issue 6, page 3406-3413 ; ISSN 0003-2700 1520-6882

الاتاحة: http://dx.doi.org/10.1021/acs.analchem.2c04904
https://pubs.acs.org/doi/pdf/10.1021/acs.analchem.2c04904

المؤلفون: Pol, Arjan, Renkema, G Herma, Tangerman, Albert, Winkel, Edwin G, Engelke, Udo F, de Brouwer, Arjan PM, Lloyd, Kent C, Araiza, Renee S, van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Oude Elberink, Marijn, Gilissen, Christian, Rodenburg, Richard J, Sass, Jörn Oliver, Schwab, K Otfried, Schäfer, Hendrik, Venselaar, Hanka, Sequeira, J Silvia, Op den Camp, Huub JM, Wevers, Ron A

المصدر: Nature Genetics. 50(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, 2.1 Biological and endogenous factors, Animals, Breath Tests, Cell Line, Cells, Cultured, Dimethyl Sulfoxide, Halitosis, Humans, Mice, Inbred C57BL, Mice, Knockout, Mutation, Oxidoreductases, Selenium-Binding Proteins, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3bs7b08t
https://escholarship.org/content/qt3bs7b08t/qt3bs7b08t.pdf

المؤلفون: Bliziotis, Nikolaos G, Kluijtmans, Leo A J, Tinnevelt, Gerjen H, Reel, Parminder, Reel, Smarti, Langton, Katharina, Robledo, Mercedes, Pamporaki, Christina, Pecori, Alessio, Van Kralingen, Josie, Tetti, Martina, Engelke, Udo F H, Erlic, Zoran, Engel, Jasper, Deutschbein, Timo, Nölting, Svenja, Prejbisz, Aleksander, Richter, Susan, Adamski, Jerzy, Januszewicz, Andrzej, Ceccato, Filippo, Scaroni, Carla, Dennedy, Michael C, Williams, Tracy A, Lenzini, Livia, Gimenez-Roqueplo, Anne-Paule, Davies, Eleanor, Fassnacht, Martin, Remde, Hanna, Eisenhofer, Graeme, Beuschlein, Felix, Kroiss, Matthias, Jefferson, Emily, Zennaro, Maria-Christina, Wevers, Ron A, Jansen, Jeroen J, Deinum, Jaap, Timmers, Henri J L M

المساهمون: Bliziotis, Nikolaos G, Kluijtmans, Leo A J, Tinnevelt, Gerjen H, Reel, Parminder, Reel, Smarti, Langton, Katharina, Robledo, Mercede, Pamporaki, Christina, Pecori, Alessio, Van Kralingen, Josie, Tetti, Martina, Engelke, Udo F H, Erlic, Zoran, Engel, Jasper, Deutschbein, Timo, Nölting, Svenja, Prejbisz, Aleksander, Richter, Susan, Adamski, Jerzy, Januszewicz, Andrzej, Ceccato, Filippo, Scaroni, Carla, Dennedy, Michael C, Williams, Tracy A, Lenzini, Livia, Gimenez-Roqueplo, Anne-Paule, Davies, Eleanor, Fassnacht, Martin, Remde, Hanna, Eisenhofer, Graeme, Beuschlein, Felix, Kroiss, Matthia, Jefferson, Emily, Zennaro, Maria-Christina, Wevers, Ron A, Jansen, Jeroen J, Deinum, Jaap, Timmers, Henri J L M

مصطلحات موضوعية: confounder, metabolomic, multicenter, plasma NMR, preanalytical conditions

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35893246; info:eu-repo/semantics/altIdentifier/wos/WOS:000845412300001; volume:12; issue:8; firstpage:679; journal:METABOLITES; http://hdl.handle.net/11577/3452911; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137390663; https://www.mdpi.com/2218-1989/12/8/679

الاتاحة: http://hdl.handle.net/11577/3452911
https://doi.org/10.3390/metabo12080679
https://www.mdpi.com/2218-1989/12/8/679

المؤلفون: Weerd, Jorine C. van der, Wegberg, Annemiek M. J. van, Boer, Theo S., Engelke, Udo F. H., Coene, Karlien L. M., Wevers, Ron A., Bakker, Stephan J. L., Blaauw, Pim de, Groen, Joost, Spronsen, Francjan J. van, Heiner-Fokkema, M. Rebecca

المصدر: Metabolites (2218-1989); Sep2024, Vol. 14 Issue 9, p479, 25p

مصطلحات موضوعية: LIQUID chromatography-mass spectrometry, PANTOTHENIC acid, LIPIDOMICS, PHENYLKETONURIA, GLYCEROLIPIDS

المؤلفون: Bliziotis, Nikolaos G, Kluijtmans, Leo A J, Soto, Sebastian, Tinnevelt, Gerjen H, Langton, Katharina, Robledo, Mercedes, Pamporaki, Christina, Engelke, Udo F H, Erlic, Zoran, Engel, Jasper, Deutschbein, Timo, Nölting, Svenja, Prejbisz, Aleksander, Richter, Susan, Prehn, Cornelia, Adamski, Jerzy, Januszewicz, Andrzej, Reincke, Martin, Fassnacht, Martin, Eisenhofer, Graeme, Beuschlein, Felix, Kroiss, Matthias, Wevers, Ron A, Jansen, Jeroen J, Deinum, Jaap, Timmers, Henri J L M

المصدر: Bliziotis, Nikolaos G; Kluijtmans, Leo A J; Soto, Sebastian; Tinnevelt, Gerjen H; Langton, Katharina; Robledo, Mercedes; Pamporaki, Christina; Engelke, Udo F H; Erlic, Zoran; Engel, Jasper; Deutschbein, Timo; Nölting, Svenja; Prejbisz, Aleksander; Richter, Susan; Prehn, Cornelia; Adamski, Jerzy; Januszewicz, Andrzej; Reincke, Martin; Fassnacht, Martin; Eisenhofer, Graeme; Beuschlein, Felix; Kroiss, Matthias; Wevers, Ron A; Jansen, Jeroen J; Deinum, Jaap; Timmers, Henri J L M (2022). Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma. Endocrine, 75(1):254-265.

مصطلحات موضوعية: Clinic for Endocrinology and Diabetology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/206993/1/Bliziotis2021_Article_Pre-VersusPost-operativeUntarg.pdf; info:pmid/34536194; urn:issn:1355-008X

الاتاحة: https://www.zora.uzh.ch/id/eprint/206993/

المؤلفون: Bliziotis, Nikolaos G., Kluijtmans, Leo A. J., Soto, Sebastian, Tinnevelt, Gerjen H., Langton, Katharina, Robledo, Mercedes, Pamporaki, Christina, Engelke, Udo F. H., Erlic, Zoran, Engel, Jasper, Deutschbein, Timo, Nölting, Svenja, Prejbisz, Aleksander, Richter, Susan, Prehn, Cornelia, Adamski, Jerzy, Januszewicz, Andrzej, Reincke, Martin, Fassnacht, Martin, Eisenhofer, Graeme, Beuschlein, Felix, Kroiss, Matthias, Wevers, Ron A., Jansen, Jeroen J., Deinum, Jaap, Timmers, Henri J. L. M.

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: 633983; https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/32657; urn:nbn:de:bvb:20-opus-326574; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-326574; https://doi.org/10.1007/s12020-021-02858-z; https://opus.bibliothek.uni-wuerzburg.de/files/32657/s12020-021-02858-z.pdf

الاتاحة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/32657
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-326574
https://doi.org/10.1007/s12020-021-02858-z
https://opus.bibliothek.uni-wuerzburg.de/files/32657/s12020-021-02858-z.pdf

المؤلفون: Merx, Jona, Outersterp, Rianne E. van, Engelke, Udo F. H., Hendriks, Veronique, Wevers, Ron A., Huigen, Marleen C. D. G., Waterval, Huub W. A. H., Körver-Keularts, Irene M. L. W., Mecinović, Jasmin, Rutjes, Floris P. J. T., Oomens, Jos, Coene, Karlien L. M., Martens, Jonathan, Boltje, Thomas J.

المصدر: Merx , J , Outersterp , R E V , Engelke , U F H , Hendriks , V , Wevers , R A , Huigen , M C D G , Waterval , H W A H , Körver-Keularts , I M L W , Mecinović , J , Rutjes , F P J T , Oomens , J , Coene , K L M , Martens , J & Boltje , T J 2022 , ' Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II ' , Communications Biology , vol. 5 , no. 1 , 997 ....

مصطلحات موضوعية: 1-Pyrroline-5-Carboxylate Dehydrogenase/deficiency, Amino Acid Metabolism, Inborn Errors, Biomarkers, Phosphates, Proline Oxidase/genetics, Proline/metabolism, Pyridoxal, Pyrroles

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/d6670a32-e601-4a61-9f5b-e3d7ae02a28b

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/d6670a32-e601-4a61-9f5b-e3d7ae02a28b
https://doi.org/10.1038/s42003-022-03960-2
https://findresearcher.sdu.dk/ws/files/209321381/s42003_022_03960_2.pdf

المؤلفون: Tseng, Laura A, Engelke, Udo F H, Huigen, Marleen C D G, Kluijtmans, Leo A J, Haaxma, Charlotte A, Koolen, David A, Bok, Levinus A, Wright, Jason N, Gospe, Sidney M, Janssen, Mirian C H, van Karnebeek, Clara D M, Coene, Karlien L M

المصدر: Clinical Chemistry ; volume 68, issue 5, page 732-735 ; ISSN 0009-9147 1530-8561

الاتاحة: https://doi.org/10.1093/clinchem/hvab276
https://academic.oup.com/clinchem/article-pdf/68/5/732/46320535/hvab276.pdf

المؤلفون: Engelke, Udo F. H., van Outersterp, Rianne E., Merx, Jona, van Geenen, Fred A. M. G., van Rooij, Arno, Berden, Giel, Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Peters, Tessa M. A., Al-Shekaili, Hilal H., Leavitt, Blair R., de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A., Kulkarni, Purva, Rutjes, Floris P. J. T., Mecinović, Jasmin, Struys, Eduard A., Jansen, Laura A., Gospe, Sidney M., Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A. A. P., Bok, Levinus A., van Karnebeek, Clara D. M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan, Coene, Karlien L. M.

المصدر: Engelke , U F H , van Outersterp , R E , Merx , J , van Geenen , F A M G , van Rooij , A , Berden , G , Huigen , M C D G , Kluijtmans , L A J , Peters , T M A , Al-Shekaili , H H , Leavitt , B R , de Vrieze , E , Broekman , S , van Wijk , E , Tseng , L A , Kulkarni , P , Rutjes , F P J T , Mecinović , J , Struys , E ....

الاتاحة: https://research.vumc.nl/en/publications/4a38f8f6-27d4-485c-ad8a-7e7e0fa52902
https://doi.org/10.1172/JCI148272
http://www.scopus.com/inward/record.url?scp=85111823821&partnerID=8YFLogxK

المؤلفون: den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, van Karnebeek, Clara D M

المساهمون: Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Klinische Genetica

مصطلحات موضوعية: N-acetyl-D-neuraminic acid, congenital disorder of glycosylation, glycosylation, intellectual developmental disorder/IDD, metabolic disease, sialic acid biosynthesis, skeletal dysplasia, thrombocytopenia, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/443055

الاتاحة: https://dspace.library.uu.nl/handle/1874/443055

المؤلفون: van Outersterp, Rianne E, Engelke, Udo F H, Merx, Jona, Berden, Giel, Paul, Mathias, Thomulka, Thomas, Berkessel, Albrecht, Huigen, Marleen C D G, Kluijtmans, Leo A J, Mecinović, Jasmin, Rutjes, Floris P J T, van Karnebeek, Clara D M, Wevers, Ron A, Boltje, Thomas J, Coene, Karlien L M, Martens, Jonathan, Oomens, Jos

المصدر: van Outersterp , R E , Engelke , U F H , Merx , J , Berden , G , Paul , M , Thomulka , T , Berkessel , A , Huigen , M C D G , Kluijtmans , L A J , Mecinović , J , Rutjes , F P J T , van Karnebeek , C D M , Wevers , R A , Boltje , T J , Coene , K L M , Martens , J & Oomens , J 2021 , ' Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy ....

مصطلحات موضوعية: Aldehyde Dehydrogenase, Biomarkers, Chromatography, Liquid, Epilepsy/diagnosis, Humans, Infant, Newborn, Metabolomics

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/00969fb9-7a5e-4302-9e02-1fb1cc782ef1

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/00969fb9-7a5e-4302-9e02-1fb1cc782ef1
https://doi.org/10.1021/acs.analchem.1c02896
https://findresearcher.sdu.dk/ws/files/196584867/acs.analchem.1c02896.pdf

المؤلفون: van Outersterp, Rianne E., Moons, Sam J., Engelke, Udo F. H., Bentlage, Herman, Peters, Tessa M. A., van Rooij, Arno, Huigen, Marleen C. D. G., de Boer, Siebolt, van der Heeft, Ed, Kluijtmans, Leo A. J., van Karnebeek, Clara D. M., Wevers, Ron A., Berden, Giel, Oomens, Jos, Boltje, Thomas J., Coene, Karlien L. M., Martens, Jonathan

المساهمون: Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Communications Biology ; volume 4, issue 1 ; ISSN 2399-3642

الاتاحة: http://dx.doi.org/10.1038/s42003-021-01909-5
https://www.nature.com/articles/s42003-021-01909-5.pdf
https://www.nature.com/articles/s42003-021-01909-5

المؤلفون: Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, Reintjes, Joris T. G., Roullet, Jean‐Baptiste, Broekman, Sanne, de Vrieze, Erik, van Wijk, Erwin, Wamelink, Mirjam M. C., Artuch, Rafael, Barić, Ivo, Merx, Jona, Boltje, Thomas J., Martens, Jonathan, Willemsen, Michèl A. A. P., Verbeek, Marcel M., Wevers, Ron A., Gibson, K. Michael, Coene, Karlien L. M.

المصدر: Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p417-430, 14p

المؤلفون: Szeri, Flóra, Lundkvist, Stefan, Donnelly, Sylvia, Engelke, Udo F H, Rhee, Kyu, Williams, Charlene J, Sundberg, John P, Wevers, Ron A, Tomlinson, Ryan, Jansen, Robert S, van de Wetering, Koen

المصدر: Department of Dermatology and Cutaneous Biology Faculty Papers

مصطلحات موضوعية: Schwartz-Lelek Syndrome, Hyperostosis, Pyle Disease, Dermatology, Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://jdc.jefferson.edu/dcbfp/133; https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1144&context=dcbfp

الاتاحة: https://jdc.jefferson.edu/dcbfp/133
https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1144&context=dcbfp

المؤلفون: Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, van der Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.

المصدر: Journal of Inherited Metabolic Disease ; volume 43, issue 5, page 1112-1120 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12253
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjimd.12253
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12253
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12253