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

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

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

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

المؤلفون: Posset, R., Garbade, S. F., Gleich, F., Gropman, A. L., De Lonlay, P., Hoffmann, G. F., Garcia-Cazorla, A., Nagamani, S. C. S., Baumgartner, M. R., Schulze, A., Dobbelaere, Dries, Yudkoff, M., Kölker, S., Zielonka, M.

المساهمون: Université de Lille, CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Scientific Reports; Sci Rep; http://hdl.handle.net/20.500.12210/115635

الاتاحة: https://hdl.handle.net/20.500.12210/115635

المؤلفون: Hammann, N., Lenz, D., Baric, I., Crushell, E., Vici, C.D., Distelmaier, F., Feillet, F., Freisinger, P., Hempel, M., Khoreva, A.L., Laass, M.W., Lacassie, Y., Lainka, E., Larson-Nath, C., Li, Z., Lipiński, P., Lurz, E., Mégarbané, A., Nobre, S., Olivieri, G., Peters, B., Prontera, P., Schlieben, L.D., Seroogy, C.M., Sobacchi, C., Suzuki, S., Tran, C., Vockley, J., Wang, J.S., Wagner, M., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Staufner, C.

المصدر: Molecular genetics and metabolism, vol. 141, no. 3, pp. 108118

مصطلحات موضوعية: Humans, Phenotype, Pelger-Huet Anomaly/complications, Pelger-Huet Anomaly/genetics, Pelger-Huet Anomaly/pathology, Liver Failure, Acute/genetics, Mutation, Missense, Neuroblastoma/complications, Genotype-phenotype correlation, ILFS2, NBAS, Recurrent acute liver failure, SOPH

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38244286; info:eu-repo/semantics/altIdentifier/eissn/1096-7206; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C34190170CCC7; https://serval.unil.ch/notice/serval:BIB_C34190170CCC; https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C34190170CCC
https://doi.org/10.1016/j.ymgme.2023.108118
https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C34190170CCC7

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

Relation: 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_F3F865C56384; https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_F3F865C56384
https://doi.org/10.1002/jimd.12566
https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F3F865C563848

المؤلفون: Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y., Cortès-Saladelafont, E., de Laet, C., Dobbelaere, Dries, 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.

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 1573-2665 ; J Inherit Metab Dis ; https://hal.univ-lille.fr/hal-04737732 ; J Inherit Metab Dis, 2022, J Inherit Metab Dis, 46, pp.220-231. ⟨10.1002/jimd.12572⟩.

مصطلحات موضوعية: coronavirus, COVID-19, E-IMD, IMD, intoxication-type inherited metabolic diseases, pandemic, SARS-CoV-2, survey, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36266255; PUBMED: 36266255

الاتاحة: https://hal.univ-lille.fr/hal-04737732
https://hal.univ-lille.fr/hal-04737732v1/document
https://hal.univ-lille.fr/hal-04737732v1/file/J%20of%20Inher%20Metab%20Disea%20-%202022%20-%20M%C3%BCtze%20-%20Impact%20of%20the%20SARS%E2%80%90CoV%E2%80%902%20pandemic%20on%20the%20health%20of%20individuals%20with.pdf
https://doi.org/10.1002/jimd.12572

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

Relation: 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_5D5BE243D67D; https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_5D5BE243D67D
https://doi.org/10.1002/jimd.12499
https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6

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

Relation: 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/11568/1022303; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952; https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5

الاتاحة: https://hdl.handle.net/11568/1022303
https://doi.org/10.1186/s13023-019-1280-5
https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5

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

Relation: https://ora.ox.ac.uk/objects/uuid:4b3c7645-9f76-491d-bb93-7676a5beff69; https://doi.org/10.1107/s205225252000696x

الاتاحة: https://doi.org/10.1107/s205225252000696x
https://ora.ox.ac.uk/objects/uuid:4b3c7645-9f76-491d-bb93-7676a5beff69

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

Relation: https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf; 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

الاتاحة: https://eprints.whiterose.ac.uk/177468/
https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf

المؤلفون: Posset, R., Garbade, S. F., Gleich, F., Gropman, A. L., de Lonlay, P., Hoffmann, G. F., Garcia-Cazorla, A., Nagamani, S. C. S., Baumgartner, M. R., Schulze, A., Dobbelaere, Dries, Yudkoff, M., Kölker, S., Zielonka, M.

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 2045-2322.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/32686765; PUBMED: 32686765

الاتاحة: https://hal.univ-lille.fr/hal-04752866
https://hal.univ-lille.fr/hal-04752866v1/document
https://hal.univ-lille.fr/hal-04752866v1/file/s41598-020-67496-3.pdf
https://doi.org/10.1038/s41598-020-67496-3

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

Relation: 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=59757; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

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

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

Relation: 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=57419; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

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

المؤلفون: Zielonka M, Breuer M, Okun JG, Carl, Matthias, Hoffmann GF, Kölker S

المساهمون: Zielonka, M, Breuer, M, Okun, Jg, Carl, Matthia, Hoffmann, Gf, Kölker, S

مصطلحات موضوعية: Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all)

Relation: info:eu-repo/semantics/altIdentifier/pmid/30199544; info:eu-repo/semantics/altIdentifier/wos/WOS:000444681100020; volume:13; issue:9; firstpage:020370701; lastpage:020370724; numberofpages:24; journal:PLOS ONE; http://hdl.handle.net/11572/216339; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053608710; https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0203707&type=printable

الاتاحة: http://hdl.handle.net/11572/216339
https://doi.org/10.1371/journal.pone.0203707
https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0203707&type=printable

المؤلفون: Kovacevic, A., Kölker, S., Hoffmann, G.F., Gorenflo, M., Garbade, S.F., Staufner, C.

المصدر: The Thoracic and Cardiovascular Surgeon ; 50th Annual Meeting of the German Society for Pediatric Cardiology (DGPK) ; ISSN 1439-1902

الاتاحة: http://dx.doi.org/10.1055/s-0038-1628313
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0038-1628313

المؤلفون: Schuurmans, I.M.E., Dimitrov, B., Schröter, J., Ribes, A., Fuente, R.P. de la, Zamora, B., Karnebeek, C.D.M. van, Kölker, S., Garanto, A.

المصدر: Journal of Inherited Metabolic Disease; 371; 390; 0141-8955; 3; 46; ~Journal of Inherited Metabolic Disease~371~390~~~0141-8955~3~46~~

URL: https://repository.ubn.ru.nl/handle/2066/292922

المؤلفون: Vaz, F.M., McDermott, J.H., Alders, M., Wortmann, S.B., Kölker, S., Pras-Raves, M.L., Vervaart, M.A.T., van Lenthe, H., Luyf, A.C.M., Elfrink, H.L., Metcalfe, K., Cuvertino, S., Clayton, P.E., Yarwood, R., Lovell, S., Rogers, R.C., van Kampen, A.H.C., Ruiter, J.P.N., Wanders, R.J.A., Ferdinandusse, S., van Weeghel, M., Engelen, M., Banka, S.

المصدر: Brain 142, 3382-3397 (2019)

مصطلحات موضوعية: Hereditary Spastic Paraplegia, Pcyt2, Ctp:phosphoethanolamine Cytidylyltransferase, Phospholipid Biosynthesis, Lipidomics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/31637422; info:eu-repo/semantics/altIdentifier/wos/WOS:000504323200020; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57168; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57168
https://doi.org/10.1093/brain/awz291

المؤلفون: Lucienne, M., Gerlini, R., Rathkolb, B., Calzada-Wack, J., Forny, P., Wueest, S., Kaech, A., Traversi, F., Forny, M., Bürer, C., Aguilar-Pimentel, J.A., Irmler, M., Beckers, J., Sauer, S., Kölker, S., Dewulf, J.P., Bommer, G.T., Hoces, D., Gailus-Durner, V., Fuchs, H., Rozman, J., Froese, D.S., Baumgartner, M.R., Hrabě de Angelis, M.

المصدر: Hum. Mol. Genet. 32, 2717-2734 (2023)

Relation: info:eu-repo/semantics/altIdentifier/pmid/37369025; info:eu-repo/semantics/altIdentifier/wos/001029519200001; info:eu-repo/semantics/altIdentifier/isbn/0964-6906; info:eu-repo/semantics/altIdentif

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68344
https://doi.org/10.1093/hmg/ddad100

المؤلفون: Thalwitzer, K.M., Driedger, J.H., Xian, J., Saffari, A., Zacher, P., Bölsterli, B.K., Ruggiero, S.M., Sullivan, K.R., Datta, A.N., Kellinghaus, C., Althaus, J., Wiemer-Kruel, A., Baalen, A. van, Pampel, A., Alber, M., Braakman, H.M.H., Debus, O.M., Denecke, J., Hobbiebrunken, E., Breitweg, I., Diehl, D., Eitel, H., Gburek-Augustat, J., Preisel, M., Schlump, J.U., Laufs, M., Mammadova, D., Wurst, C., Prager, C., Löhr-Nilles, C., Martin, P., Garbade, S.F., Platzer, K., Benkel-Herrenbrueck, I., Egler, K., Fazeli, W., Lemke, J.R., Runkel, E., Klein, B., Linden, T., Schröter, J., Steffeck, H., Thies, B., Deimling, F. von, Illsinger, S., Borggraefe, I., Classen, G., Wieczorek, D., Ramantani, G., Koelker, S., Hoffmann, G.F., Ries, M., Helbig, I., Syrbe, S.

المصدر: Neurology, 101, 9, pp. e879-e891

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/296182/296182.pdf; https://repository.ubn.ru.nl/handle/2066/296182

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/296182/296182.pdf
https://repository.ubn.ru.nl/handle/2066/296182
https://doi.org/10.1212/WNL.0000000000207550

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

Relation: https://boris.unibe.ch/174009/

الاتاحة: 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.pdf
https://boris.unibe.ch/174009/