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: Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M, Matthijs G, Nassogne MC, Debray FG, Roland D, Chamova T, Kozich V, Pavel J, Zenker M, Lampe C, Das AM, Hennermann J, Kölker S, Weinhold N, Mohnike K, Gruenert S, Lund AM, Morales-Conejo M, Del Toro-Riera M, Aldámiz-Echevarría L, Garcia-Silva MT, Schiff M, Gouya L, de Lonlay P, Belmatoug N, Germain DP, Cano A, Dobbelaere D, Jones S, Dawson C, Deegan P, Santra S, Vijay S, Petkovic Ramadza D, Barić I, Žigman T, Pflieger G, Szakszon K, Kaposta R, Gasperini S, Burlina A, Parenti G, Strisciuglio P, Ceccarini G, Federico A, Simonati A, Tumiene B, Huidekoper H, van Spronsen F, Bosch A, Rubio-Gozalbo ME, Visser G, Tangeraas T, Aarsand A, Kieć-Wilk B, Mendes Gaspar AS, Quelhas D, Leao-Teles E, Azevedo O, Rodriges Silva EF, de Abreu Freire Diogo Matos LM, Martins E, Lajic S, Darin N, Groselj U, Tansek MZ.

المساهمون: Heard, Jm, Vrinten, C, Schlander, M, Bellettato, Cm, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, Mc, Debray, Fg, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, Am, Hennermann, J, Kölker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, Am, Morales-Conejo, M, Del Toro-Riera, M, Aldámiz-Echevarría, L, Garcia-Silva, Mt, Schiff, M, Gouya, L, de Lonlay, P, Belmatoug, N, Germain, Dp, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Petkovic Ramadza, D, Barić, I, Žigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, Me, Visser, G, Tangeraas, T, Aarsand, A, Kieć-Wilk, B, Mendes Gaspar, A, Quelhas, D, Leao-Teles, E, Azevedo, O, Rodriges Silva, Ef, de Abreu Freire Diogo Matos, Lm, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, Mz.

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31907071; info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11568/1022303Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952; https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5Test

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
https://hdl.handle.net/11568/1022303Test

المؤلفون: Kremer, L.S., Danhauser, K., Herebian, D., Petkovic Ramadža, D., Piekutowska-Abramczuk, D., Seibt, A., Müller-Felber, W., Haack, T.B., Płoski, R., Lohmeier, K., Schneider, D., Klee, D., Rokicki, D., Mayatepek, E., Strom, T.M., Meitinger, T., Klopstock, T., Pronicka, E., Mayr, J.A., Baric, I., Distelmaier, F., Prokisch, H.

المصدر: Am. J. Hum. Genet. 99, 894-902 (2016)

مصطلحات موضوعية: Nad(p)hx, Energy Metabolism, Metabolite Repair, Mitochondrial

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27616477; info:eu-repo/semantics/altIdentifier/wos/WOS:000385333700009; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49468Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.07.018Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49468Test

المؤلفون: Heard J. -M., Vrinten C., Schlander M., Bellettato C. M., Van Lingen C., Scarpa M., Matthijs G., Nassogne M. -C., Debray F. -G., Roland D., Chamova T., Kozich V., Pavel J., Zenker M., Lampe C., Das A. M., Hennermann J., Kolker S., Weinhold N., Mohnike K., Gruenert S., Lund A. M., Morales-Conejo M., Del Toro-Riera M., Aldamiz-Echevarria L., Garcia-Silva M. -T., Schiff M., Gouya L., De Lonlay P., Belmatoug N., Germain D. P., Cano A., Dobbelaere D., Jones S., Dawson C., Deegan P., Santra S., Vijay S., Petkovic Ramadza D., Baric I., Zigman T., Pflieger G., Szakszon K., Kaposta R., Gasperini S., Burlina A., Parenti G., Strisciuglio P., Ceccarini G., Federico A., Simonati A., Tumiene B., Huidekoper H., Van Spronsen F., Bosch A., Rubio-Gozalbo M. -E., Visser G., Tangeraas T., Aarsand A., Kiec-Wilk B., Mendes Gaspar A. -M. S., Quelhas D., Leao-Teles E., Azevedo O., Rodriges Silva E. -M. F., De Abreu Freire L. -M. D. M., Martins E., Lajic S., Darin N., Groselj U., Tansek M. -Z.

المساهمون: Heard, J. -M., Vrinten, C., Schlander, M., Bellettato, C. M., Van Lingen, C., Scarpa, M., Matthijs, G., Nassogne, M. -C., Debray, F. -G., Roland, D., Chamova, T., Kozich, V., Pavel, J., Zenker, M., Lampe, C., Das, A. M., Hennermann, J., Kolker, S., Weinhold, N., Mohnike, K., Gruenert, S., Lund, A. M., Morales-Conejo, M., Del Toro-Riera, M., Aldamiz-Echevarria, L., Garcia-Silva, M. -T., Schiff, M., Gouya, L., De Lonlay, P., Belmatoug, N., Germain, D. P., Cano, A., Dobbelaere, D., Jones, S., Dawson, C., Deegan, P., Santra, S., Vijay, S., Petkovic Ramadza, D., Baric, I., Zigman, T., Pflieger, G., Szakszon, K., Kaposta, R., Gasperini, S., Burlina, A., Parenti, G., Strisciuglio, P., Ceccarini, G., Federico, A., Simonati, A., Tumiene, B., Huidekoper, H., Van Spronsen, F., Bosch, A., Rubio-Gozalbo, M. -E., Visser, G., Tangeraas, T., Aarsand, A., Kiec-Wilk, B., Mendes Gaspar, A. -M. S., Quelhas, D., Leao-Teles, E., Azevedo, O., Rodriges Silva, E. -M. F., De Abreu Freire, L. -M. D. M., Martins, E., Lajic, S., Darin, N., Groselj, U., Tansek, M. -Z.

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Disease, Inborn errors of metabolism, Orphan medicinal product

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11577/3486188Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
https://hdl.handle.net/11577/3486188Test

المؤلفون: Žigman, T., Šikić, K., Petković Ramadža, D., Mayr, J., Wortmann, S., Prokisch, H., Ninković, D., Dilber, D., Šarić, D., Rubić, F., Galić, S., Slaviček, J., Belina, D., Fumić, K., Barić, I.

المصدر: J. Pediatr. Endocrinol. Metab. 34, 389-393 (2021)

مصطلحات موضوعية: Atp Synthase Deficiency, Hemodialysis, Hyperammonemia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33180048; info:eu-repo/semantics/altIdentifier/wos/WOS:000626416000014; info:eu-repo/semantics/altIdentifier/isbn/0334-018X; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60606Test; urn:isbn:0334-018X; urn:issn:0334-018X; urn:issn:2191-0251

الإتاحة: https://doi.org/10.1515/jpem-2020-0396Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60606Test

المؤلفون: Karacic, I, Meili, D, Sarnavka, V, Heintz, C, Thony, B, Petkovic Ramadza, D, Fumic, K, Mardesic, D, Baric, I, Blau, N

المصدر: Karacic, I; Meili, D; Sarnavka, V; Heintz, C; Thony, B; Petkovic Ramadza, D; Fumic, K; Mardesic, D; Baric, I; Blau, N (2009). Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Molecular Genetics and Metabolism, 97(3):165-171.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/26471/9/Karacic_MolGenMet_2009_V.pdfTest; info:pmid/19394257; urn:issn:1096-7192 (P) 1096-7206 (E)

الإتاحة: https://doi.org/10.5167/uzh-2647110.1016/j.ymgme.2009.03.009Test
https://www.zora.uzh.ch/id/eprint/26471Test/
https://www.zora.uzh.ch/id/eprint/26471/9/Karacic_MolGenMet_2009_V.pdfTest