المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, DeVriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, AM, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Yvette, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V

المصدر: Lenaerts , L , Reynhout , S , Verbinnen , I , Laumonnier , F , Toutain , A , Bonnet-Brilhault , F , Hoorne , Y , Joss , S , Chassevent , AK , Smith-Hicks , C , Loeys , B , Joset , P , Steindl , K , Rauch , A , Mehta , SG , Chung , WK , DeVriendt , K , Holder , SE , Jewett , T , Baldwin , LM , Wilson , WG , Towner , S , Srivastava , S , Johnson , HF , Daumer-Haas , C ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/dd1771c1-6507-4ca0-99eb-40b3ea93e39e
https://doi.org/10.1038/s41436-020-00981-2
http://www.scopus.com/inward/record.url?scp=85093843292&partnerID=8YFLogxK
https://www.nature.com/articles/s41436-020-00981-2.pdf

المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, Devriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, A-M, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Y, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V

المصدر: Genetics in Medicine (2020) (In press).

مصطلحات موضوعية: PPP2R1A, PP2A, intellectual disability, neurodevelopmental disorder, epilepsy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10114644/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10114644/

المؤلفون: Chandler, D, Angelicheva, D, Heather, L, Gooding, R, Gresham, D, Yanakiev, P, de Jonge, R, Baas, F, Dye, D, Karagyozov, L, Savov, A, Blechschmidt, K, Keats, B, Thomas, PK, King, RH, Starr, A, Nikolova, A, Colomer, J, Ishpekova, B, Tournev, I, Urtizberea, JA, Merlini, L, Butinar, D, Chabrol, B, Voit, T, Baethmann, M, Nedkova, V, Corches, A, Kalaydjieva, L

المصدر: Neuromuscular disorders : NMD. 10(8)

مصطلحات موضوعية: Humans, Disease Progression, Chromosome Mapping, Pedigree, DNA Mutational Analysis, Genotype, Haplotypes, Phenotype, Adolescent, Adult, Middle Aged, Child, Europe, Female, Male, Hereditary Sensory and Motor Neuropathy, Roma, hereditary motor and sensory neuropathy type Lom, genetic mapping, gypsy families, Neurology & Neurosurgery, Clinical Sciences, Neurosciences, Medical Physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3dj3g474

المؤلفون: Capelle, C.I. (Carine) van, Meijden, J.C. (Chris) van der, Hout, J.M.P. (Johanna) van den, Jaeken, J., Baethmann, M., Voit, T., Kroos, M.A. (Marian), Derks, T.G.J. (Terry G J), Rubio-Gozalbo, M.E. (Estela), Willemsen, M.A. (Michél), Lachmann, R. (Robin), Mengel, E., Michelakakis, H. (Helen), Jongste, J.C. (Johan) de, Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der

المصدر: Orphanet journal of rare diseases vol. 11 no. 1

مصطلحات موضوعية: Childhood, Clinical spectrum, Genotype, Natural course, Pompe disease

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/FP7/201678; info:eu-repo/grantAgreement/EC/FP7/304999; http://repub.eur.nl/pub/90975; urn:hdl:1765/90975

الاتاحة: http://repub.eur.nl/pub/90975
https://doi.org/10.1186/s13023-016-0442-y

المؤلفون: van Capelle, CI, van der Meijden, JC, van den Hout, JMP, Jaeken, J, Baethmann, M, Voit, T, Kroos, MA, Derks, TGJ, Rubio-Gozalbo, ME, Willemsen, MA, Lachmann, RH, Mengel, E, Michelakakis, H, de Jongste, JC, Reuser, AJJ, van der Ploeg, AT

المصدر: Orphanet Journal of Rare Diseases , 11 , Article 65. (2016)

مصطلحات موضوعية: Pompe disease, Childhood, Clinical spectrum, Genotype, Natural course

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10050771/1/s13023-016-0442-y.pdf; https://discovery.ucl.ac.uk/id/eprint/10050771/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10050771/1/s13023-016-0442-y.pdf
https://discovery.ucl.ac.uk/id/eprint/10050771/

المؤلفون: Prestel, Jürgen, Volkers, Peter, Linster, E., Blaes, F., Krämer, H., Guthke, K., Schmidt, H., Krumpolt, H., Schiess, D., Roth, M., Fuchs, H. H., Schneider, E., Wohlfarth, K., Langel, S., Müller, T., Sick, W., Schwandt, D., Wellach, I., Töpper, R. F., Koehler, J., Rosenkranz, T., Knepel, S., Duwe, T., Stiller, M., Bößenecker, W., Rieke, K., Baas, H., Brunotte, P., Tümmler, J., Heidenreich, F., Stangel, M., Stift, T., Ringleb, P., Kaendler, S., Humbroich, K., Bamberg, C., Plöger, H., Sitzer, M., Dieter, J., Dietz, M., Eicke, M., Ochs, G., Güldenring, A., Hagemann, G., Zinke, J., Fetter, M., Gerlach, R., Herath, H., Escheu, G., Stingele, R., Berthold, A., Schmitt, E., Haupt, W. F., Petereit, H. F., Limmroth, V., von Giesen, H. J., Kirsch, B., Reckhardt, M., Heckmann, J. G., Beuche, W., Schattenfroh, C., Tampier-Pohl, C., Friedl, R., Oberwittler, C., Schlenker, M., Trillenberg, P., Abushammala, A., Schabet, M., Borak, P., Eßer, M., Thümen, A., Lins, H., Vielhaber, S., Bayerl, J., Tackenberg, B., Hachgenei, A., Meisenheim, G. K., Philipps, J., Tings, T., Braun, H., Franz, O., Jauß, M., Berthele, A., München, T. U., Hupfer, W., Nagi, M., Dziewas, R., Kusch, W., Lobenstein, S., Fischer, V., Harzheim, M., Syed, N., Bitsch, A., Jahnke, U., Allendörfer, J., Dietrich, W., Görtzen, A., Stark, E., Wenning, W., Neumann, F., Petrick, M., Isenhardt, K., Kaiser, R., Niehoff, T., Deymann, R., Hartmann, R., Christe, W., Görlitz, C., Hotz, M., Buchner, H., Balzer, K., Braune, H. J., Mentzer, Dirk, Bader, P., Kindl, H. J., Leschnik, O., Lohner, H., Zettl, U., Kiefer, R., Krauth, S., Hansberg, T., Matrisch, H., Vetter, T., Schepelmann, K., Glocker, F., Schade, B., Nguento, A., Fortwängler, T., Hartnack, F., Neuhaus, O., Wennrich, M., Leopold, H. C., Tebben, J., Polzer, U., Sieb, P., Reimers, C. D., Huss, G. P., Kuhl, V., Gawlitza, M., Freudenberger, T., Rieder, G., Schröder, K., Bös, M., Krüger, T., Rechlin, M., Bufler, J., Riesterer-Hemm, G., Angerer, M., Möller, P., Eppinger, B., Dömges, F., Albrecht, P., Kotterba, S., Stolz, E., Schmidt, N., Trottenberg, T., Feige, P., Trabold, R., Hufschmidt, A., Svrakova, L., Haensch, C. A., Kastrau, F., Schmidt, P., Reiners, K., Weinmann, E., Merkelbach, S., Bachhuber, A., Hermann, W., Homberg, V., Häusler, M., Toth, M., Weiß, B. M., Stein, D., Klepper, J., Hirsch, T., von Moers, A., Brandes, H., Botsch, M., Köhler, C., Klee, R., Franke, I., Kössel, H., Kauffmann, B., Schwalm, H., Kirschstein, M., Tribukait, U., Mandl, M., Böhmann, H., Schaetz, K., Hebing, B., von Rosen, F., Steinert, M., Eichholz, S., von Lilien-Waldau, T., Karenfort, M., Kretzschmar, B., Trollmann, R., Schmiedel, G., Dördelmann, M., Kieslich, M., Mause, U., Daffertshofer, M., Grüber, C., Korinthenberg, R., Heubner, G., Mattes, J., Radlow, U., Repp, R., Klinge, J., Genseke, R., Gsinn, S., Gebhardt, B., Hofler, D., Papsch, M., Mutlak, S., Brockmann, K., Koch, G., Mandelkow, F., v Blanckenburg, P., Bertram, U., Vieker, S., Peltner, H. U., Sander, M., Lehmann, Helmar C., Hofstadt, U., Shamdeen, M. G., Nowka, S., Koch, W., Walkenhorst, H., Rubens, T., Westerbeck, K., Rübo, J., Wiater, A., Pflumm, K., Bensch, J., Baumsteiger, C., Engelhardt, H., Deja, M., Borte, M., Tibussek, D., Bosse, H., Rinschen, K., Härtel, C., Gaude-Wagener, M., Beyer, U., Pädiatrie, A., Dreger, J., Peters, H., Kowalzik, F., Seipelt, P., Zippel, S., Pargac, K. N., Schobeß, A., Müller, W., Baethmann, M., Leiz, S., Gehrmann, A., Stachulski, F., Makowski, C., Fiedler, B., Böswald, M., Weisbrod, T., Kintzel, K., Franz, C., Feickert, H. J., Kühl, P. G., Schneider, M., Raab, K., Harms, H., Beyer, P., Kauther, K. D., Reiter, H. L., Behl, E. S., Trefz, F. K., Hoffmann, H. G., Buss, M., Olbertz, D. M., Hempel, L., Kauert, A., Agricola, G., Horneff, G., Augustin, K. S., Mihatsch, W., Kurre, A., Colling, S., Burghard, R., Soditt, V., Feierfeil, K., Hornbrook, D., Haas, J., Kellner, L., Pernice, W., Schirmer, D., Alber, M., Geerken, S., Kratz, M., Köhler, A., Knuf, M., Repinska, T., Buller, M., von Brevern, M., Becker, J. C., Niesytto, C., Skopnik, H., Borusiak, P., Verbeek, T., Gabler, I., Winkelmann, T., Völzke, E., Ducke, F., Hartung, Hans-Peter, Böhme, H., Koennecke, H. C., Ecke, A., Bähr, D., Nabavi, D. G., Hopmann, D., Porz, D., Neumayer, B., Keller-Stanislawski, Brigitte, Kitzrow, M., Börnke, C., Schröder, A., Kowalski, T., Günther, J., Boeckler, D., Reinshagen, A., Sarholz, M., Böhm, K. D., Weiland, T., GBS Study Group, Kuhlmann, R. J., Heide, W., Heider, S., Schüler, O., Claus, D., Kunesch, E., Yaretskyy, G., Spieker, S., Jung, S., Gerber, J., Spitzer, C., Busch, A., Schneider, H., Machetanz, J., Grehl, H., Nolden-Koch, M., Wilmsen, H., Lehmann, H., Seitz, R., Griese, M., Heyden, M., Schmitt, H. M., Dietze, C., Holz, J., Leinisch, E., Derfuß, T., Linker, R., Reinhardt, F. M., Krämer, M., Koeppen, S., Gerhard, H., Klötzsch, C., Bauer, H., Stolze, H., Jost, V., Steinmetz, H., Schütz, H., Böhm, J., Rauer, S., Klotz, J. M., Schneider, A., Biemann, M.

المصدر: Pharmacoepidemiology and drug safety 23(11), 1192-1204 (2014). doi:10.1002/pds.3638

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000345076200011; info:eu-repo/semantics/altIdentifier/issn/1053-8569; info:eu-repo/semantics/altIdentifier/issn/1099-1557; info:eu-repo/semantics/altIdentifier/pmid/pmid:24817531; https://publications.rwth-aachen.de/record/462580; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-090997%22

الاتاحة: https://publications.rwth-aachen.de/record/462580
https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-090997%22

المؤلفون: Göhlich-Ratmann, G., Baethmann, M., Lorenz, P., Gärtner, J., Goebel, H. H., Engelbrecht, V., Christen, H. J., Lenard, H. G., Voit, T.

المساهمون: Göhlich-Ratmann, G., Baethmann, M., Lorenz, P., Gärtner, J., Goebel, H. H., Engelbrecht, V., Christen, H. J., Lenard, H. G., Voit, T.

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/2155; 000076065100002; 3144522

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/2155

المؤلفون: Huemer, M., Diodato, D., Martinelli, D., Olivieri, G., Blom, H., Gleich, F., Kölker, S., Kožich, V., Morris, A.A., Seifert, B., Froese, D.S., Baumgartner, M.R., Dionisi-Vici, C., Martin, C.A., Baethmann, M., Ballhausen, D., Blasco-Alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K.A., Couce, M.L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M.C., García Silva, M.T., Gaspar, A.M., Gautschi, M., González-Lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, MCH, Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A.M., Martins, E.G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-Giner, C., Ruiz Gómez, M.A., Santra, S., Schiff, M., Schwartz, I.V., Scholl-Bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J., Weisfeld-Adams, J.

المساهمون: EHOD consortium

المصدر: Journal of inherited metabolic disease, vol. 42, no. 2, pp. 333-352

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Amino Acid Metabolism, Inborn Errors/diagnosis, Inborn Errors/therapy, Child, Preschool, Cross-Sectional Studies, Disease Progression, Europe, Female, Homocystinuria/metabolism, Humans, Infant, Newborn, Male, Methylation, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/metabolism, Methylmalonic Acid/urine, Muscle Spasticity/metabolism, Phenotype, Pregnancy, Psychotic Disorders/metabolism, Registries, Retrospective Studies, Vitamin B 12/metabolism, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/30773687; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; https://serval.unil.ch/notice/serval:BIB_D06F42D28EF4

الاتاحة: https://serval.unil.ch/notice/serval:BIB_D06F42D28EF4
https://doi.org/10.1002/jimd.12041

المؤلفون: Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi-vici, Carlo, Alcalde Martin, C., Baethmann, M., Ballhausen, D., Blasco-alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K. A., Couce, M. L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M. C., García Silva, M. T., Gaspar, A. M., Gautschi, M., González-lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, M. C. H., Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A. M., Martins, E. G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-giner, C., Ruiz Gómez, M. A., Santra, S., Schiff, M., Schwartz, I. V., Scholl-bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J., Weisfeld-adams, J.

المصدر: Huemer , M , Diodato , D , Martinelli , D , Olivieri , G , Blom , H , Gleich , F , Kölker , S , Kožich , V , Morris , A A , Seifert , B , Froese , D S , Baumgartner , M R , Dionisi-vici , C , Alcalde Martin , C , Baethmann , M , Ballhausen , D , Blasco-alonso , J , Boy , N , Bueno , M , Burgos Peláez , R , Cerone , R , Chabrol , B , Chapman , K A , Couce ....

الاتاحة: https://research.manchester.ac.uk/en/publications/46d89290-1d41-47b6-8958-e0ad5a495dae
https://doi.org/10.1007/s10545-018-0238-4
http://link.springer.com/10.1007/s10545-018-0238-4

المؤلفون: Huemer, M. Diodato, D. Martinelli, D. Olivieri, G. Blom, H. Gleich, F. Kölker, S. Kožich, V. Morris, A.A. Seifert, B. Froese, D.S. Baumgartner, M.R. Dionisi-Vici, C. Martin, C.A. Baethmann, M. Ballhausen, D. Blasco-Alonso, J. Boy, N. Bueno, M. Burgos Peláez, R. Cerone, R. Chabrol, B. Chapman, K.A. Couce, M.L. Crushell, E. Dalmau Serra, J. Diogo, L. Ficicioglu, C. García Jimenez, M.C. García Silva, M.T. Gaspar, A.M. Gautschi, M. González-Lamuño, D. Gouveia, S. Grünewald, S. Hendriksz, C. Janssen, M.C.H. Jesina, P. Koch, J. Konstantopoulou, V. Lavigne, C. Lund, A.M. Martins, E.G. Meavilla Olivas, S. Mention, K. Mochel, F. Mundy, H. Murphy, E. Paquay, S. Pedrón-Giner, C. Ruiz Gómez, M.A. Santra, S. Schiff, M. Schwartz, I.V. Scholl-Bürgi, S. Servais, A. Skouma, A. Tran, C. Vives Piñera, I. Walter, J. Weisfeld-Adams, J. the EHOD consortium

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d3eac380200a0058991330b985248b38
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087258

المؤلفون: Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenco CM, Sawyer S, Steinfeld R, Gartner J, Brockmann K

المساهمون: Rosewich, H, Ohlenbusch, A, Huppke, P, Schlotawa, L, Baethmann, M, Carrilho, I, Fiori, S, Lourenco, Cm, Sawyer, S, Steinfeld, R, Gartner, J, Brockmann, K

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000336262500012; volume:82; issue:11; firstpage:945; lastpage:955; numberofpages:11; journal:NEUROLOGY; http://hdl.handle.net/11568/1129184; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84898729032

الاتاحة: http://hdl.handle.net/11568/1129184
https://doi.org/10.1212/WNL.0000000000000212

المؤلفون: Leiz, S., Petrova, S., Ahting, U., Alhaddad, B., Baethmann, M., Freisinger, P., Haack, T.

المصدر: Neuropediatrics ; volume 47, issue S 01 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0036-1583621
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1583621

المؤلفون: Breuer, K., Olze, A., Borggräfe, I., Gärtner, J., Leiz, S., Baethmann, M.

المصدر: Neuropediatrics ; volume 47, issue S 01 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0036-1583670
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1583670

المؤلفون: Tacke, Moritz, Gerstl, Lucia, Heinen, Florian, Heukaeufer, Isabel, Bonfert, Michaela, Bast, Thomas, Cornell, Sonia, Neubauer, Bernd Axel, Borggraefe, Ingo, Baumeister, F.A.M., Baethmann, M., Schreiber-Gollwitzer, B., Bentele, K., Blank, C., Held, J., Blank, H.M., Liebrich, K., Bode, H., Braun, J., Bosch, F., Wagner, R., Brandl, U., Wetzel, K., Brockmann, K., Schlockwerder, C., Dahlem, P., Baudler, I., Ernst, J.P., Mayer, H., Feldmann, E., Pattber-Wolff, A., Fiedler, A., Sonnleitner, S., Gerigk, M., Heß, S., Feiereis, T., Hikel, C., Hoffmann, H.G., Rickeshenrich, A., Kieslich, M., Dewitz, R., Baz Bartels, M., Klepper, J., Kleuker, S., Kluger, G., Kirsch, A., Koch, H., Meerpohl, U., Koch, W., Korinthenberg, R.

المصدر: European Journal of Paediatric Neurology ; volume 20, issue 6, page 874-879 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2016.07.015
https://api.elsevier.com/content/article/PII:S1090379816301209?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1090379816301209?httpAccept=text/xml

المؤلفون: Poschmann, S., Baethmann, M., Biskup, S., Leiz, S.

المصدر: Neuropediatrics ; volume 46, issue S 01 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0035-1550723
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1550723

المؤلفون: van Spronsen, F., Jaeken, J., Rubio-Gozalbo, M., van der Meijden, J., Willemsen, M., Baethmann, M., Lachmann, R., van Capelle, C., Mengel, E., Voit, T., Michelakakis, H., van der Hout, J., Reuser, A., Kroos, M., van der Ploeg, A.

المصدر: Neuromuscular Disorders ; volume 25, page S190 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2015.06.027
https://api.elsevier.com/content/article/PII:S0960896615002084?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896615002084?httpAccept=text/plain

المؤلفون: Capelle, C.I. van, Meijden, J.C. van der, Hout, J.M. van den, Jaeken, J., Baethmann, M., Voit, T., Kroos, M.A., Derks, T.G., Rubio-Gozalbo, M.E., Willemsen, M.A.A.P., Lachmann, R.H., Mengel, E., Michelakakis, H., Jongste, J.C. de, Reuser, A.J., Ploeg, A.T. van der

المصدر: Orphanet Journal of Rare Diseases; 65; 1750-1172; 1; 11; ~Orphanet Journal of Rare Diseases~65~~~~1750-1172~1~11~~

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/167647/167647.pdf
http://hdl.handle.net/2066/167647
https://doi.org/10.1186/s13023-016-0442-y

المؤلفون: Capelle, Carine, Meijden, Chris, van den Hout, Hannerieke, Jaeken, J, Baethmann, M, Voit, T, Haan, Marian, Derks, TGJ, Rubio-Gozalbo, ME, Willemsen, MA, Lachmann, RH, Mengel, E, Michelakakis, H, Jongste, Johan, Reuser, Arnold, van der Ploeg, Ans

المصدر: Capelle , C , Meijden , C , van den Hout , H , Jaeken , J , Baethmann , M , Voit , T , Haan , M , Derks , TGJ , Rubio-Gozalbo , ME , Willemsen , MA , Lachmann , RH , Mengel , E , Michelakakis , H , Jongste , J , Reuser , A & van der Ploeg , A 2016 , ' Childhood Pompe disease: clinical spectrum and genotype in 31 patients ' , Orphanet Journal of Rare Diseases , vol. 11 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401; name=EMC MM-01-54-01, dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR015402; name=EMC OR-01-54-02, article

URL: https://pure.eur.nl/en/publications/fb1ce019-b27a-4c6d-9e01-702cf1897c40

المؤلفون: Leiz, S, Kleinlein, B, Hiener, U, Wickede, M von, Baethmann, M, Peters, J

المصدر: Neuropediatrics ; volume 44, issue 02 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0033-1337891
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1337891

المؤلفون: Böhringer, E, Kluger, G, Steinbeis-von Stülpnagel, C, Kohlschütter, A, Meyer-Osores, A, Hagel, C, Baethmann, M, Leiz, S

المصدر: Neuropediatrics ; volume 44, issue 02 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0033-1337704
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1337704