المؤلفون: Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie-Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, María, Chapman, Kimberly A, Chien, Yin-Hsiu, Huemer, Martina, JeÅ¡ina, Pavel, Janssen, Mirian C H, Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras-Hurtado, Gloria Liliana, Benoist, Jean-François, Damaj, Léna, Schiff, Manuel, E-HOD Consortium

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire

المصدر: Journal of inherited metabolic disease, Vol. 45, no.4, p. 848-861 (2022)

مصطلحات موضوعية: Cohort Studies, Homocysteine, Homocystinuria, Humans, Infant, Newborn, Methylenetetrahydrofolate Reductase (NADPH2), Muscle Spasticity, Psychotic Disorders, Retrospective Studies, EHOD, MTHFR deficiency, neurodevelopmental outcome, newborn screening, remethylation defects

العلاقة: boreal:278995; http://hdl.handle.net/2078.1/278995Test; info:pmid/35460084; urn:ISSN:0141-8955; urn:EISSN:1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12504Test
http://hdl.handle.net/2078.1/278995Test

المؤلفون: Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A M, Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi-Vici, Carlo, Baumgartner, Matthias R, Blom, Henk J, Huemer, Martina, E-HOD consortium, Paquay, Stéphanie

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Journal of inherited metabolic disease, Vol. 44, no.3, p. 677-692 (2021)

مصطلحات موضوعية: Adolescent, Adult, Aged, Child, Preschool, Cystathionine beta-Synthase, Delayed Diagnosis, Europe, Female, Homocystinuria, Humans, Infant, Linear Models, Male, Methionine, Middle Aged, Phenotype, Pyridoxine, Registries, Severity of Illness Index, Young Adult, developmental delay, natural history, patient registry, thromboembolism

العلاقة: boreal:264310; http://hdl.handle.net/2078.1/264310Test; info:pmid/33295057; urn:ISSN:0141-8955; urn:EISSN:1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12338Test
http://hdl.handle.net/2078.1/264310Test

المؤلفون: MARELLI, Cecilia, LAVIGNE, Christian, STEPIEN, Karolina M., JANSSEN, Mirian C. H., FEILLET, Francois, KOZICH, Viktor, JESINA, Pavel, SCHULE, Rebecca, KESSLER, Christoph, REDONNET VERNHET, Isabelle, REGNIER, Adeline, BURDA, Patricie, BAUMGARTNER, Matthias, BENOIST, Jean-Francois, HUEMER, Martina, MOCHEL, Fanny, THE E-HOD, Consortium

مصطلحات موضوعية: Adult, Inherited metabolic disease, Late-onset, MTHFR deficiency, Neurology, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

العلاقة: 0141-8955 (print) 1573-2665 (online); https://oskar-bordeaux.fr/handle/20.500.12278/116613Test

الإتاحة: https://doi.org/20.500.12278/116613Test
https://doi.org/10.1002/jimd.12323Test
https://oskar-bordeaux.fr/handle/20.500.12278/116613Test
https://hdl.handle.net/20.500.12278/116613Test

المؤلفون: Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A M, Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi-Vici, Carlo, Baumgartner, Matthias R, Blom, Henk J, Huemer, Martina, E-HOD consortium, Paquay, Stéphanie

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, Vol. 44, no.3, p. 677-692 (2021)

مصطلحات موضوعية: Adult, Male, Delayed Diagnosis, Adolescent, Cystathionine beta-Synthase, Severity of Illness Index, homocystinuria, Young Adult, Methionine, patient registry, Humans, Registries, Child, Aged, Infant, Pyridoxine, Original Articles, Middle Aged, thromboembolism, Europe, developmental delay, Phenotype, natural history, Child, Preschool, Linear Models, Female, Original Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7bdb3204b3906e4df339d4ff3bd22ca7Test
https://pubmed.ncbi.nlm.nih.gov/33295057Test

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

المساهمون: E-HOD consortium, Aldámiz-Echevarría, L., Arantes, R.R., Arrieta, F., Blasco-Alonso, J., Brouwers, M., Brunner-Krainz, M., Bueno, M., Peláez, R.B., Cano, A., Couce, M.L., Crushell, E., Ficicioglu, C., Forny, P., García Jiménez, M.C., Gaspar, A., González-Lamuño Leguina, D., Chapman, K.A., Chien, Y.H., Janssen, MCH, Ješina, P., Lachmann, R., Lavigne, C., Lund, A.M., Lüsebrink, N., Maillot, F., Martins, A.M., Olivas, S.M., Mention, K., Mochel, F., Monavari, A., Moreira, S., Moreno, C.A., Muačević-Katanec, D., Mundy, H., Murphy, E., Olivieri, G., Paquay, S., Pedrón-Giner, C., Quintana, L.P., Porras-Hurtado, G.L., Fraile, P.Q., Redonnet-Vernhet, I., Rennings, AJM, Pons, M.R., Santra, S., Servais, A., Schiaffino, M.C., Schiff, M., Schwahn, B.C., Schwartz, IVD, Sremba, L.J., Stainforth, C., Stepien, K.M., Sykut-Cegielska, J., Terry, A., Tran, C., Miñana, I.V., Vives-Piñera, I., Williams, M., Zeman, J., Zielonka, M.

المصدر: Journal of inherited metabolic disease, vol. 44, no. 3, pp. 677-692

مصطلحات موضوعية: developmental delay, homocystinuria, methionine, natural history, patient registry, thromboembolism

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33295057; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; https://serval.unil.ch/notice/serval:BIB_7F1B6C75347CTest; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_7F1B6C75347C.P001/REF.pdfTest

الإتاحة: https://doi.org/10.1002/jimd.12338Test
https://serval.unil.ch/notice/serval:BIB_7F1B6C75347CTest
https://serval.unil.ch/resource/serval:BIB_7F1B6C75347C.P001/REF.pdfTest

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

المساهمون: E-HOD consortium, Aldámiz-Echevarría, L., Arantes, R.R., Arrieta, F., Blasco-Alonso, J., Brouwers, M., Brunner-Krainz, M., Bueno, M., Peláez, R.B., Cano, A., Couce, M.L., Crushell, E., Ficicioglu, C., Forny, P., García Jiménez, M.C., Gaspar, A., González-Lamuño Leguina, D., Chapman, K.A., Chien, Y.H., Janssen, MCH, Ješina, P., Lachmann, R., Lavigne, C., Lund, A.M., Lüsebrink, N., Maillot, F., Martins, A.M., Olivas, S.M., Mention, K., Mochel, F., Monavari, A., Moreira, S., Moreno, C.A., Muačević-Katanec, D., Mundy, H., Murphy, E., Olivieri, G., Paquay, S., Pedrón-Giner, C., Quintana, L.P., Porras-Hurtado, G.L., Fraile, P.Q., Redonnet-Vernhet, I., Rennings, AJM, Pons, M.R., Santra, S., Servais, A., Schiaffino, M.C., Schiff, M., Schwahn, B.C., Schwartz, IVD, Sremba, L.J., Stainforth, C., Stepien, K.M., Sykut-Cegielska, J., Terry, A., Tran, C., Miñana, I.V., Vives-Piñera, I., Williams, M., Zeman, J., Zielonka, M.

المصدر: Serveur académique Lausannois ; Journal of inherited metabolic disease, vol. 44, no. 3, pp. 677-692

مصطلحات موضوعية: psy, socio

العلاقة: urn:issn:0141-8955; 10670/1.s5ic5p; https://serval.unil.ch/resource/serval:BIB_7F1B6C75347C.P001/REF.pdfTest; https://serval.unil.ch/notice/serval:BIB_7F1B6C75347CTest

الإتاحة: https://doi.org/10.1002/jimd.12338Test
https://serval.unil.ch/resource/serval:BIB_7F1B6C75347C.P001/REF.pdfTest
https://serval.unil.ch/notice/serval:BIB_7F1B6C75347CTest