المؤلفون: Keller, R, Chrastina, P, Pavlikova, M, Gouveia, S, Ribes, A, Kolker, S, Blom, HJ, Baumgartner, MR, Bartl, J, Dionisi-Vici, C, Gleich, F, Morris, AA, Kozich, V, Huemer, M, Baric, I, Ben-Omran, T, Blasco-Alonso, J, Delgado, MA, Carducci, C, Cassanello, M, Cerone, R, Couce, ML, Crushell, E, Pecellin, CD, Dulin, E, Espada, M, Ferino, G, Fingerhut, R, Jimenez, IG, Gallego, IG, Gonzalez-Irazabal, Y, Gramer, G, Fita, MJJ, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Teles, EL, Leuzzi, V, Lilliu, F, Lopez, RM, Lund, AM, Mayne, P, Meavilla, S, Moat, SJ, Okun, JG, Pasquini, E, Pedron-Giner, CC, Racz, GZ, Gomez, MAR, Vilarinho, L, Yahyaoui, R, Tansek, MZ, Zetterstrom, RH, Zeyda, M

المصدر: Journal of inherited metabolic disease. 42(1):128-139

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140235248Test

المؤلفون: Mütze, U., Gleich, F., Garbade, S.F., Plisson, C., Aldámiz-Echevarría, L., Arrieta, F., Ballhausen, D., Zielonka, M., Petković Ramadža, D., Baumgartner, M.R., Cano, A., García Jiménez, M.C., Dionisi-Vici, C., Ješina, P., Blom, H.J., Couce, M.L., Meavilla Olivas, S., Mention, K., Mochel, F., Morris, AAM, Mundy, H., Redonnet-Vernhet, I., Santra, S., Schiff, M., Servais, A., Vitoria, I., Huemer, M., Kožich, V., Kölker, S.

المصدر: Journal of inherited metabolic disease, vol. 45, no. 4, pp. 719-733

مصطلحات موضوعية: Betaine/adverse effects, Cystathionine beta-Synthase, Homocysteine, Homocystinuria/drug therapy, Humans, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Muscle Spasticity, Psychotic Disorders, E-HOD, betaine anhydrous, homocystinuria, orphan drug, postauthorization safety study, public private partnership, rare disease

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35358327; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5D5BE243D67D6; https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test

الإتاحة: https://doi.org/10.1002/jimd.12499Test
https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest
https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test

المؤلفون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G. F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.

المساهمون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G.F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.

مصطلحات موضوعية: genotypic spectrum, HIDS, mevalonate, mevalonate kinase deficiency, mevalonic aciduria, phenotypic spectrum

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34145613; info:eu-repo/semantics/altIdentifier/wos/WOS:000667246700001; volume:44; issue:5; firstpage:1272; lastpage:1287; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11585/840819Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114693375

الإتاحة: https://doi.org/10.1002/jimd.12412Test
https://hdl.handle.net/11585/840819Test

المؤلفون: Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), Djordjevic, M. (Maja)

المصدر: Scientific Reports vol. 10 no. 1

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/129092Test; urn:hdl:1765/129092

الإتاحة: https://doi.org/10.1038/s41598-020-67496-3Test
http://repub.eur.nl/pub/129092Test

المؤلفون: Ottenberger, A., Mütze, U., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Dahl, S. vom, Roloff, S., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T.

المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

مصطلحات موضوعية: NEWBORN screening, MITOCHONDRIAL proteins, SURVIVAL rate, CARDIOMYOPATHIES, MUSCLE diseases

المؤلفون: Mütze, U, Gleich, F, Barić, I, Baumgartner, M, Burlina, A, Chapman, K A, Chien, Y, Cortès-Saladelafont, E, De Laet, C, Dobbelaere, D, Eysken, F, Gautschi, M, Santer, R, Häberle, J, Joaquín, C, Karall, D, Lindner, M, Lund, A M, Mühlhausen, C, Murphy, E, Roland, D, Ruiz Gomez, A, Skouma, A, Grünert, S C, Wagenmakers, M, Garbade, S F, Kölker, S, Boy, N

المصدر: Mütze, U; Gleich, F; Barić, I; Baumgartner, M; Burlina, A; Chapman, K A; Chien, Y; Cortès-Saladelafont, E; De Laet, C; Dobbelaere, D; Eysken, F; Gautschi, M; Santer, R; Häberle, J; Joaquín, C; Karall, D; Lindner, M; Lund, A M; Mühlhausen, C; Murphy, E; . (2023). Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases - data from the E-IMD consortium. Journal of inherited metabolic disease, 46(2), pp. 220-231. Wiley 10.1002/jimd.12572

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/174009Test/

الإتاحة: https://doi.org/10.1002/jimd.12572Test
https://boris.unibe.ch/174009/1/J_of_Inher_Metab_Disea_-_2022_-_M_tze_-_Impact_of_the_SARS_CoV_2_pandemic_on_the_health_of_individuals_with.pdfTest
https://boris.unibe.ch/174009Test/

المؤلفون: Yverneau, M., Leroux, S., Imbard, A., Gleich, F., Arion, A., Moreau, C., Nassogne, M.C., Szymanowski, M., Tardieu, M., Touati, G., Bueno, M., Chapman, K.A., Chien, Y.H., Huemer, M., Ješina, P., Janssen, M.C.H., Kölker, S., Kožich, V., Lavigne, C., Lund, A.M., Mochel, F., Morris, A., Pons, M.R., Porras-Hurtado, G.L., Benoist, J.F., Damaj, L., Schiff, M.

المصدر: Journal of Inherited Metabolic Disease, 45, 4, pp. 848-861

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://repository.ubn.ru.nl/handle/2066/286882Test; http://dx.doi.org/10.1002/jimd.12504Test

الإتاحة: https://doi.org/10.1002/jimd.12504Test
https://repository.ubn.ru.nl/handle/2066/286882Test

المؤلفون: Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: homocystinuria, post-authorization safety study, Betaine anhydrous, rare disease, orphan drug, public private partnership, E-HOD

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::ab6229611621f5b59740db376b00da3cTest
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15641Test

المؤلفون: Opladen T., Gleich F., Kozich V., Scarpa M., Martinelli D., Schaefer F., Jeltsch K., Julia-Palacios N., Garcia-Cazorla A., Dionisi-Vici C., Kolker S.

المساهمون: Opladen, T., Gleich, F., Kozich, V., Scarpa, M., Martinelli, D., Schaefer, F., Jeltsch, K., Julia-Palacios, N., Garcia-Cazorla, A., Dionisi-Vici, C., Kolker, S.

مصطلحات موضوعية: ERDRI, European infrastructure for rare disease, European reference network for rare hereditary metabolic disorder, Inherited metabolic disease, MetabERN, U-IMD, Unified european registry for inherited metabolic diseases

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000620928800005; volume:16; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11577/3486186Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101025250

الإتاحة: https://doi.org/10.1186/s13023-021-01726-3Test
https://hdl.handle.net/11577/3486186Test

المؤلفون: Kožich, V., Sokolová, J., Morris, A.A., Pavlíková, M., Gleich, F., Kölker, S., Krijt, J., Dionisi-Vici, C., Baumgartner, M.R., Janssen, M.C.H., Blom, H.J., Huemer, M.

المصدر: Journal of Inherited Metabolic Disease, 44, 3, pp. 677-692

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/245669/245669.pdfTest; https://repository.ubn.ru.nl/handle/2066/245669Test; https://doi.org/10.1002/jimd.12338Test

الإتاحة: https://doi.org/10.1002/jimd.12338Test
https://repository.ubn.ru.nl//bitstream/handle/2066/245669/245669.pdfTest
https://repository.ubn.ru.nl/handle/2066/245669Test