المؤلفون: Bölsterli, Bigna K., Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L., Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril, O'Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A., Prokisch, Holger, Wortmann, Saskia B.

مصطلحات موضوعية: mitochondrial disease, epilepsy, hepatopathy, aspartate glutamate carrier 1 deficiency, AGC1, citrin deficiency, Citrullinemia, treatment, modified Atkins diet, serine, info:eu-repo/classification/ddc/610, ddc:610

العلاقة: 3605

الإتاحة: https://ul.qucosa.de/id/qucosa%3A88529Test
https://ul.qucosa.de/api/qucosa%3A88529/attachment/ATT-0Test/

المؤلفون: Wortmann, Saskia B, Feichtinger, Rene G, Abela, Lucia, van Gemert, Loes A, Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Heinritz, Wolfram, Hildebrandt, Julia, Himmelreich, Nastassja, Korenke, Christoph, Lehman, Anna, Leyland, Thomas, Makowski, Christine, Martinez Marin, Rafael Jenaro, Marzin, Pauline, Mühlhausen, Chris, Rio, Marlène, Rotig, Agnes, Roux, Charles-Joris, Schiff, Manuel, Haack, Tobias B, Syrbe, Steffen, Zylicz, Stas A, Thiel, Christian, Veiga da Cunha, Maria, Van Schaftingen, Emile, Wagner, Matias, Mayr, Johannes A, Wevers, Ron A, Boltshauser, Eugen, Willemsen, Michel A

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Neurology. Genetics, Vol. 10, no.2, p. e200146 (2024)

العلاقة: boreal:288435; http://hdl.handle.net/2078.1/288435Test; info:pmid/38617198; urn:ISSN:2376-7839; urn:EISSN:2376-7839

الإتاحة: https://doi.org/10.1212/NXG.0000000000200146Test
http://hdl.handle.net/2078.1/288435Test

المؤلفون: Gafner, Michal, Haddad, Leila, Gupta, Rachna, Leibovitz, Zvi, Zilberman Ron, Itamar, Ben‐Sira, Liat, Libzon, Stephanie, Gindes, Liat, Boltshauser, Eugen, Lerman‐Sagie, Tally

المصدر: Developmental Medicine & Child Neurology ; ISSN 0012-1622 1469-8749

الإتاحة: https://doi.org/10.1111/dmcn.15845Test

المؤلفون: Serpieri, Valentina, Mortarini, Giulia, Loucks, Hailey, Biagini, Tommaso, Micalizzi, Alessia, Palmieri, Ilaria, Dempsey, Jennifer C, D'Abrusco, Fulvio, Mazzotta, Concetta, Battini, Roberta, Bertini, Enrico Silvio, Boltshauser, Eugen, Borgatti, Renato, Brockmann, Knut, D'Arrigo, Stefano, Nardocci, Nardo, Fischetto, Rita, Agolini, Emanuele, Novelli, Antonio, Romano, Alfonso, Romaniello, Romina, Stanzial, Franco, Signorini, Sabrina, Strisciuglio, Pietro, Gana, Simone, Mazza, Tommaso, Doherty, Dan, Valente, Enza Maria

المساهمون: Serpieri, Valentina, Mortarini, Giulia, Loucks, Hailey, Biagini, Tommaso, Micalizzi, Alessia, Palmieri, Ilaria, Dempsey, Jennifer C, D'Abrusco, Fulvio, Mazzotta, Concetta, Battini, Roberta, Bertini, Enrico Silvio, Boltshauser, Eugen, Borgatti, Renato, Brockmann, Knut, D'Arrigo, Stefano, Nardocci, Nardo, Fischetto, Rita, Agolini, Emanuele, Novelli, Antonio, Romano, Alfonso, Romaniello, Romina, Stanzial, Franco, Signorini, Sabrina, Strisciuglio, Pietro, Gana, Simone, Mazza, Tommaso, Doherty, Dan, Valente, Enza Maria

مصطلحات موضوعية: Cerebellar Disease, Founder Effect, Gene Frequency, Genetic Carrier Screening, Genotype

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36788019; info:eu-repo/semantics/altIdentifier/wos/WOS:000935563200001; numberofpages:14; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11568/1170047Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159312262; https://jmg.bmj.com/content/60/9/885Test

الإتاحة: https://doi.org/10.1136/jmg-2022-108725Test
https://hdl.handle.net/11568/1170047Test
https://jmg.bmj.com/content/60/9/885Test

المؤلفون: Schröder, Simone, Yigit, Gökhan, Li, Yun, Altmüller, Janine, Büttel, Hans-Martin, Fiedler, Barbara, Kretzschmar, Christoph, Nürnberg, Peter, Seeger, Jürgen, Serpieri, Valentina, Valente, Enza M., Wollnik, Bernd, Boltshauser, Eugen, Brockmann, Knut

المساهمون: Schröder, Simone, Yigit, Gökhan, Li, Yun, Altmüller, Janine, Büttel, Hans-Martin, Fiedler, Barbara, Kretzschmar, Christoph, Nürnberg, Peter, Seeger, Jürgen, Serpieri, Valentina, Valente, Enza M., Wollnik, Bernd, Boltshauser, Eugen, Brockmann, Knut

مصطلحات موضوعية: Congenital ocular motor apraxia, Cogan syndrome, Joubert syndrome, Molar tooth sign, Ciliopathy, Poretti–Boltshauser syndrome

العلاقة: EXC 2067: Multiscale Bioimaging; Orphanet Journal of Rare Diseases. 2023 May 02;18(1):101; https://resolver.sub.uni-goettingen.de/purl?gro-2/125725Test; https://mbexc.uni-goettingen.de/literature/publications/694Test

الإتاحة: https://doi.org/10.1186/s13023-023-02706-5Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/125725Test
https://mbexc.uni-goettingen.de/literature/publications/694Test

المؤلفون: Bicciato, Giulio, Gennari, Antonio Giulio, Oertel, Markus Florian, Dünner, Corinne, Krayenbühl, Niklaus, Boltshauser, Eugen, Toelle, Sandra P., Ramantani, Georgia

المصدر: Epileptic Disorders ; volume 25, issue 6, page 880-885 ; ISSN 1294-9361 1950-6945

الإتاحة: https://doi.org/10.1002/epd2.20149Test

المؤلفون: Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K., Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard, Hehr, Ute, Lange, Max

الوصول الحر: https://www.europeana.eu/item/2048441/item_HEOGSDZGRR5AJ7RX5YWHH6BR5FCGJGII?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCaTest

المؤلفون: Mertiri, Livja, Boltshauser, Eugen, Kralik, Stephen F., Desai, Nilesh K., Lequin, Maarten H., Huisman, Thierry A. G. M.

المصدر: Children; Jun2024, Vol. 11 Issue 6, p627, 9p

مصطلحات موضوعية: TUBEROUS sclerosis diagnosis, GLIOMAS, CEREBELLUM diseases, TUBEROUS sclerosis, MAGNETIC resonance imaging, RETROSPECTIVE studies, TERTIARY care, CHILDREN'S hospitals, SEIZURES (Medicine), CEREBELLUM, HIPPOCAMPUS (Brain), GENETIC mutation, GENETIC testing, ANTICONVULSANTS, DISEASE complications, SYMPTOMS, CHILDREN

المؤلفون: Gafner, Michal, Boltshauser, Eugen, D'Abrusco, Fulvio, Battini, Roberta, Romaniello, Romina, D'Arrigo, Stefano, Zanni, Ginevra, Leibovitz, Zvi, Yosovich, Keren, Lerman-Sagie, Tally

المساهمون: Gafner, Michal, Boltshauser, Eugen, D'Abrusco, Fulvio, Battini, Roberta, Romaniello, Romina, D'Arrigo, Stefano, Zanni, Ginevra, Leibovitz, Zvi, Yosovich, Keren, Lerman-Sagie, Tally

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36175354; info:eu-repo/semantics/altIdentifier/wos/WOS:000861541800001; volume:65; issue:4; numberofpages:11; journal:DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY; https://hdl.handle.net/11568/1157845Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139054526

الإتاحة: https://doi.org/10.1111/dmcn.15419Test
https://hdl.handle.net/11568/1157845Test

المؤلفون: Bölsterli, Bigna K, Boltshauser, Eugen, Häberle, Johannes, O'Gorman Tuura, Ruth

المصدر: Bölsterli, Bigna K; Boltshauser, Eugen; et al; Häberle, Johannes; O'Gorman Tuura, Ruth (2022). Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients, 14(17):3605.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/224047/1/nutrients_14_03605_v3.pdfTest; info:pmid/36079864; urn:issn:2072-6643

الإتاحة: https://doi.org/10.5167/uzh-22404710.3390/nu14173605Test
https://www.zora.uzh.ch/id/eprint/224047Test/
https://www.zora.uzh.ch/id/eprint/224047/1/nutrients_14_03605_v3.pdfTest