المؤلفون: Mlinaric, M, Bonham, JR, Kožich, V, Kölker, S, Majek, O, Battelino, T, Torkar, AD, Koracin, V, Perko, D, Remec, ZI, Lampret, BR, Scarpa, M, Schielen, PCJI, Zetterström, RH, Groselj, U

المصدر: International journal of neonatal screening. 9(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:237092515Test

المؤلفون: Sikonja, J, Groselj, U, Scarpa, M, la Marca, G, Cheillan, D, Kölker, S, Zetterström, RH, Kožich, V, Le Cam, Y, Gumus, G, Bottarelli, V, van der Burg, M, Dekkers, E, Battelino, T, Prevot, J, Schielen, PCJI, Bonham, JR

المصدر: International journal of neonatal screening. 8(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:235645285Test

المؤلفون: Boy, N., Mühlhausen, C., Maier, E.M., Ballhausen, D., Baumgartner, M.R., Beblo, S., Burgard, P., Chapman, K.A., Dobbelaere, D., Heringer-Seifert, J., Fleissner, S., Grohmann-Held, K., Hahn, G., Harting, I., Hoffmann, G.F., Jochum, F., Karall, D., Konstantopoulous, V., Krawinkel, M.B., Lindner, M., Märtner, EMC, Nuoffer, J.M., Okun, J.G., Plecko, B., Posset, R., Sahm, K., Scholl-Bürgi, S., Thimm, E., Walter, M., Williams, M., Vom Dahl, S., Ziagaki, A., Zschocke, J., Kölker, S.

المصدر: Journal of inherited metabolic disease, vol. 46, no. 3, pp. 482-519

مصطلحات موضوعية: Humans, Glutaryl-CoA Dehydrogenase, Lysine/metabolism, Brain Diseases, Metabolic/diagnosis, Metabolic/genetics, Metabolic/therapy, Amino Acid Metabolism, Inborn Errors/diagnosis, Inborn Errors/genetics, Inborn Errors/therapy, Glutarates/metabolism, glutaric aciduria type 1, guideline, management, monitoring, newborn screening, therapy

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36221165; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F3F865C563848; https://serval.unil.ch/notice/serval:BIB_F3F865C56384Test; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F3F865C563848Test

الإتاحة: https://doi.org/10.1002/jimd.12566Test
https://serval.unil.ch/notice/serval:BIB_F3F865C56384Test
https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F3F865C563848Test

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: Arruda Bezerra, G, Foster, WR, Bailey, HJ, Hicks, KG, Sauer, SW, Dimitrov, B, McCorvie, TJ, Okun, JG, Rutter, J, Kölker, S, Yue, WW

العلاقة: https://ora.ox.ac.uk/objects/uuid:4b3c7645-9f76-491d-bb93-7676a5beff69Test; https://doi.org/10.1107/s205225252000696xTest

الإتاحة: https://doi.org/10.1107/s205225252000696xTest
https://ora.ox.ac.uk/objects/uuid:4b3c7645-9f76-491d-bb93-7676a5beff69Test

المؤلفون: Lenz, D., Pahl, J., Hauck, F., Alameer, S., Balasubramanian, M., Baric, I., Boy, N., Church, J.A., Crushell, E., Dick, A., Distelmaier, F., Gujar, J., Indolfi, G., Lurz, E., Peters, B., Schwerd, T., Serranti, D., Kölker, S., Klein, C., Hoffmann, G.F., Prokisch, H., Greil, J., Cerwenka, A., Giese, T., Staufner, C.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdfTest; Lenz, D., Pahl, J., Hauck, F. et al. (22 more authors) (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41 (8). pp. 1781-1793. ISSN 0271-9142

الإتاحة: https://eprints.whiterose.ac.uk/177468Test/
https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdfTest

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: Lenz, D., Smith, D.E.C., Crushell, E., Husain, R.A., Salomons, G.S., Alhaddad, B., Bernstein, J.A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T.B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., Kathemann, S., Kopajtich, R., Kotzaeridou, U., Küry, S., Lainka, E., Laugwitz, L., Lupski, J.R., Posey, J.E., Reynolds, C., Rosenfeld, J.A., Schröter, J., Vansenne, F., Wagner, M., Weiß, C., Wolffenbuttel, B.H.R., Wortmann, S.B., Kölker, S., Hoffmann, G.F., Prokisch, H., Mendes, M.I., Staufner, C.

المصدر: Genet. Med. 22, 1863-1873 (2020)

مصطلحات موضوعية: Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32699352; info:eu-repo/semantics/altIdentifier/wos/WOS:000551406500001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1038/s41436-020-0904-4Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757Test

المؤلفون: Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J.A., Crushell, E., Dalgıç, B., Das, A.M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N.E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M.W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J.A., McKiernan, P.J., Mention, K., Moog, U., Mungan, N.O., Riedhammer, K.M., Santer, R., Palafoll, I.V., Vockley, J., Westphal, D.S., Wiedemann, A., Wortmann, S.B., Diwan, G.D., Russell, R.B., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Lenz, D.

المصدر: Genet. Med. 22, 610-621 (2020)

مصطلحات موضوعية: Nbas, Infantile Liver Failure Syndrome Type 2, Soph Syndrome, Acute Liver Failure, Ralf

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31761904; info:eu-repo/semantics/altIdentifier/wos/WOS:000518171700018; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1038/s41436-019-0698-4Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419Test