المؤلفون: González-Blanco, L., Paniagua, G., Couce, M., García-Fernández, A., Martínez-Cao, C., Santo, F. Dal, Zurrón-Madera, P., Sáiz, P., García-Portilla, M.P., Bobes, J.

المصدر: Neuroscience Applied ; volume 2, page 102996 ; ISSN 2772-4085

الإتاحة: https://doi.org/10.1016/j.nsa.2023.102996Test
https://api.elsevier.com/content/article/PII:S2772408523019786?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2772408523019786?httpAccept=text/plainTest

المؤلفون: Couce, M., Paniagua, Gonzalo, González Blanco, Leticia, García Fernández, Ainoa, Martínez Cao, Clara, Saiz Martínez, Pilar Alejandra, Bobes, Julio, García-Portilla González, María Paz

المصدر: WOS:001060676601114

العلاقة: European Psychiatry; http://dx.doi.org/10.1192/j.eurpsy.2023.835Test; https://hdl.handle.net/10651/71674Test

الإتاحة: https://doi.org/10.1192/j.eurpsy.2023.835Test
https://hdl.handle.net/10651/71674Test

المؤلفون: Rite Gracia, S., Martín de Vicente, C., García-Iñiguez, J. P., Couce, M. L., Samper Villagrasa, M. P., Montaner, A., Ruiz de la Cuesta, C.

وصف الملف: application/pdf

العلاقة: http://zaguan.unizar.es/record/112161Test

الإتاحة: https://doi.org/10.3389/fped.2022.830035Test
http://zaguan.unizar.es/record/112161Test

المؤلفون: Derks, Britt, Demirbas, Didem, Arantes, Rodrigo R, Banford, Samantha, Burlina, Alberto B, Cabrera, Analía, Chiesa, Ana, Couce, M Luz, Dionisi-Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl-Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M, Timson, David J, Berry, Gerard T, Rubio-Gozalbo, M Estela

المصدر: Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela (2022). Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet journal of rare diseases, 17(1), p. 331. BioMed Central 10.1186/s13023-022-02494-4

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/172664Test/

الإتاحة: https://doi.org/10.1186/s13023-022-02494-4Test
https://boris.unibe.ch/172664/1/s13023-022-02494-4.pdfTest
https://boris.unibe.ch/172664Test/

المؤلفون: Rasmussen M. I., Hansen M. L., Pichler G., Dempsey E., Pellicer A., EL-Khuffash A., A S., Piris-Borregas S., Alsina M., Cetinkaya M., Chalak L., Ozkan H., Baserga M., Sirc J., Fuchs H., Ergenekon E., Arruza L., Mathur A., Stocker M., Otero Vaccarello O., Szczapa T., Sarafidis K., Krolak-Olejnik B., Memisoglu A., Reigstad H., Rafinska-Wazny E., Hatzidaki E., Peng Z., Gkentzi D., Viellevoye R., De Buyst J., Mastretta E., Wang P., Hahn G. H., Bender L., Cornette L., Tkaczyk J., del Rio R., Fumagalli M., Papathoma E., Wilinska M., Naulaers G., Sadowska-Krawczenko I., Lecart C., Couce M. L., Fredly S., Heuchan A. M., Karen T., Greisen G.

المساهمون: M.I. Rasmussen, M.L. Hansen, G. Pichler, E. Dempsey, A. Pellicer, A. EL-Khuffash, S. A, S. Piris-Borrega, M. Alsina, M. Cetinkaya, L. Chalak, H. Ozkan, M. Baserga, J. Sirc, H. Fuch, E. Ergenekon, L. Arruza, A. Mathur, M. Stocker, O. Otero Vaccarello, T. Szczapa, K. Sarafidi, B. Krolak-Olejnik, A. Memisoglu, H. Reigstad, E. Rafinska-Wazny, E. Hatzidaki, Z. Peng, D. Gkentzi, R. Viellevoye, J. De Buyst, E. Mastretta, P. Wang, G.H. Hahn, L. Bender, L. Cornette, J. Tkaczyk, R. del Rio, M. Fumagalli, E. Papathoma, M. Wilinska, G. Naulaer, I. Sadowska-Krawczenko, C. Lecart, M.L. Couce, S. Fredly, A.M. Heuchan, T. Karen, G. Greisen

مصطلحات موضوعية: COVID-19, extremely preterm, neonatal intensive care unit admission, observational study, pandemic, randomized clinical trial, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34322460; info:eu-repo/semantics/altIdentifier/wos/WOS:000680689700001; volume:9; firstpage:1; lastpage:8; numberofpages:8; journal:FRONTIERS IN PEDIATRICS; http://hdl.handle.net/2434/864301Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111256604

الإتاحة: https://doi.org/10.3389/fped.2021.647880Test
http://hdl.handle.net/2434/864301Test

المؤلفون: Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Moeslinger, Dorothea, Couce, M. Luz, Empain, Aurelie, Ficicioglu, Can, Palacios, Natalia Julia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Buergi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.

المصدر: Rubio-Gozalbo , M E , Derks , B , Das , A M , Meyer , U , Moeslinger , D , Couce , M L , Empain , A , Ficicioglu , C , Palacios , N J , De Los Santos De Pelegrin , M M , Rivera , I A , Scholl-Buergi , S , Bosch , A M , Cassiman , D , Demirbas , D , Gautschi , M , Knerr , I , Labrune , P , Skouma , A , Verloo , P , Wortmann , S B , Treacy , E ....

مصطلحات موضوعية: galactokinase 1 deficiency, cataract, galactosemias registry, GALK1gene variants, neonatal complications, GALACTOSEMIA, ERYTHROCYTES, MUTATION, VARIANT

الإتاحة: https://doi.org/10.1038/s41436-020-00942-9Test
https://cris.maastrichtuniversity.nl/en/publications/968bad89-7faf-4b4a-a8b2-11e30e293aebTest

المؤلفون: van Wegberg A. M. J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M. S., Maillot F., van Spronsen F. J., Ahring K., Al Mutairi F., Arnoux J. B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H. B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M. L., Cozens A., Dahri S., Das A. M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F. G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F. T., Enns G. M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S. C., Haas D., Handoom B., Harte T. B., Hendriksz C., Heredia R. S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S. S., Jesina P., Jonsson J. J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C. M. A., MacDonald A., Megdad E. M., Mitchell J., Mochel F., Moreno-Lozano P. J., Morris A., Moura de Souza C. F., Munoz T., Nevalainen P. I., Oscarson M., Ounap K., Paci S., Pastores G. M., Pearl P. L., Piazzon F. B., Pitt J., Poon G., Porta F., Presner N., Rabaty A. A., Reinson K., Reismann P., Rink T., Rocha J. C., Rodrigues E., Saini A. G., Sanchez-Valle A., Sander J., Sarkhail P., Schwartz I. V. D., Sharma R., Sheng B., Siriwardena K., Sirrs S., Sjarif D. R., Sondheimer N., Sparkes R., Specola N., Stepien K. M., Szatmari I., Tchan M., Tkemaladze T., Tran C., Valle M. G., Vela-Amieva M., Verdaguer M. L., Vergano S. A., Vermeersch P., Vulturar R., Wagenmakers M. A. E. M., Weinhold N., Williams A. B., Wilson W. G., Zafeiriou D., Zhang H., Ziagaki A., Zolkowska J.

المساهمون: van Wegberg A.M.J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Ahring K., Al Mutairi F., Arnoux J.B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H.B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M.L., Cozens A., Dahri S., Das A.M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F.G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F.T., Enns G.M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S.C., Haas D., Handoom B., Harte T.B., Hendriksz C., Heredia R.S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S.S., Jesina P., Jonsson J.J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C.M.A., MacDonald A., Megdad E.M., Mitchell J., Mochel F., Moreno-Lozano P.J., Morris A., Moura de Souza C.F., Munoz T., Nevalainen P.I., Oscarson M., Ounap K., Paci S., Pastores G.M., Pearl P.L., Piazzon F.B., Pitt J., Poon G., Porta F., Presner N., Rabaty A.A., Reinson K., Reismann P., Rink T.

مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

الإتاحة: https://doi.org/10.1016/j.jpeds.2021.08.070Test
https://hdl.handle.net/11585/928082Test
https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

المؤلفون: Rubio-Gozalbo, M Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M, Rivera, Isabel A, Scholl-Bürgi, Sabine, Bosch, Annet M, Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B, Treacy, Eileen P, Timson, David J, Berry, Gerard T

المصدر: Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; . (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/147774Test/

الإتاحة: https://doi.org/10.1038/s41436-020-00942-9Test
https://boris.unibe.ch/147774/1/Galactokinase.pdfTest
https://boris.unibe.ch/147774Test/

المؤلفون: Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.

المصدر: Rubio-Gozalbo , M E , Derks , B , Das , A M , Meyer , U , Möslinger , D , Couce , M L , Empain , A , Ficicioglu , C , Juliá Palacios , N , De Los Santos De Pelegrin , M M , Rivera , I A , Scholl-Bürgi , S , Bosch , A M , Cassiman , D , Demirbas , D , Gautschi , M , Knerr , I , Labrune , P , Skouma , A , Verloo , P , Wortmann , S B , Treacy , E ....

مصطلحات موضوعية: cataract, galactokinase 1 deficiency, GALK1 gene variants, galactosemias registry, neonatal complications

وصف الملف: application/pdf

العلاقة: https://research.brighton.ac.uk/en/publications/c121bb76-f007-4d66-92aa-6d75add64bc6Test

الإتاحة: https://doi.org/10.1038/s41436-020-00942-9Test
https://research.brighton.ac.uk/en/publications/c121bb76-f007-4d66-92aa-6d75add64bc6Test
https://cris.brighton.ac.uk/ws/files/15351286/1_s2.0_S2211320720300245_main.pdfTest
http://www.scopus.com/inward/record.url?scp=85089519835&partnerID=8YFLogxKTest

المؤلفون: Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnytė, Birutė, Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T.

المصدر: Orphanet journal of rare diseases., London : BioMed Central Ltd., 2019, vol. 14, art. no 86, p. [1-11]. ; eISSN 1750-1172

مصطلحات موضوعية: Galactosemia, Galactosemia network, GALT deficiency, Natural history, Registry

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:36925658/36925658.pdfTest; https://repository.vu.lt/VU:ELABAPDB36925658&prefLang=en_USTest

الإتاحة: https://doi.org/10.1186/s13023-019-1047-zTest
https://repository.vu.lt/VU:ELABAPDB36925658&prefLang=en_USTest