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, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, 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, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ

المصدر: Orphanet journal of rare diseases. 15(1):3

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:143042857Test

المؤلفون: Schaefers, J., van der Giessen, L. J., Klees, C., Jacobs, E. H., Sieverdink, S., Dremmen, M. H.G., Spoor, J. K.H., van der Ploeg, A. T., van den Hout, J. M.P., Huidekoper, H. H.

المصدر: Schaefers , J , van der Giessen , L J , Klees , C , Jacobs , E H , Sieverdink , S , Dremmen , M H G , Spoor , J K H , van der Ploeg , A T , van den Hout , J M P & Huidekoper , H H 2021 , ' Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa ' , Orphanet Journal of Rare Diseases , vol. 16 , no. 1 , 221 . https://doi.org/10.1186/s13023-021-01858-6Test

الإتاحة: https://doi.org/10.1186/s13023-021-01858-6Test
https://pure.eur.nl/en/publications/13a61218-f950-4b5b-a18b-25c5d23b6260Test
http://www.scopus.com/inward/record.url?scp=85105773256&partnerID=8YFLogxKTest

المؤلفون: Ditters, I., van Kooten, H., van der Beek, N., van den Hout, J., Huidekoper, H., van der Ploeg, A.

المصدر: Neuromuscular Disorders ; volume 31, page S111 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.227Test
https://api.elsevier.com/content/article/PII:S0960896621004144?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621004144?httpAccept=text/plainTest

المؤلفون: Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, Niklas, 1964, Oldfors Hedberg, Carola, 1969, Regal, L., Kaat, L. D., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G., Ferdinandusse, S.

المصدر: Journal of Inherited Metabolic Disease. 45(4):819-831

مصطلحات موضوعية: Neurology, Neurologi, Pediatrics, Pediatrik, long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA, thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, fatty-acid oxidation, beta-oxidation, defects, pathophysiology, dehydrogenase, disorders, mutations, enzyme, Endocrinology & Metabolism, Genetics & Heredity, Research & Experimental, Medicine

الوصول الحر: https://gup.ub.gu.se/publication/316437Test

المؤلفون: van Kooten, H. A., Harlaar, L., van der Beek, N. A. M. E., van Doorn, P. A., van der Ploeg, A. T., Brusse, E., van der Pol, W. L., Ditters, I. A. M., Hoogendijk-Boon, M. J., Huidekoper, H. H., Kompanje, E. J. O., Oskam, A., Pijnappel, W. W. M., Sibbles, B. J., van den Dorpel, J. J. A., van der Hout, J. M. P., van der Kuy, H., van Doom, P. A., Vulto, A. G., Wagenmakers, M. A. E. M.

المصدر: van Kooten , H A , Harlaar , L , van der Beek , N A M E , van Doorn , P A , van der Ploeg , A T , Brusse , E , van der Pol , W L , Ditters , I A M , Hoogendijk-Boon , M J , Huidekoper , H H , Kompanje , E J O , Oskam , A , Pijnappel , W W M , Sibbles , B J , van den Dorpel , J J A , van der Hout , J M P , van der Kuy ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/44a18295-9f5b-44b9-9751-ba905b776db9Test

الإتاحة: https://doi.org/10.1016/j.nmd.2019.11.007Test
https://pure.eur.nl/en/publications/44a18295-9f5b-44b9-9751-ba905b776db9Test
https://pure.eur.nl/ws/files/80632805/1_s2.0_S0960896619312052_main.pdfTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:000525822000009&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Crefcoeur, L., Ferdinandusse, S., Crabben, S.N. van der, Dekkers, E., Fuchs, Sabine A., Huidekoper, H., Janssen, M.C.H., Langendonk, J., Maase, R., Sain, M. de, Rubio, E., Spronsen, F.J. van, Vaz, F.M., Verschoof, R., Vries, M.C. de, Wijburg, F., Visser, G., Langeveld, M.

المصدر: Journal of Medical Genetics, 60, 12, pp. 1177-1185

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders Internal Medicine, Radboudumc 6: Metabolic Disorders Paediatrics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/300093/300093.pdfTest; https://repository.ubn.ru.nl/handle/2066/300093Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109206Test
https://repository.ubn.ru.nl//bitstream/handle/2066/300093/300093.pdfTest
https://repository.ubn.ru.nl/handle/2066/300093Test

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

المؤلفون: Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Haberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Moeslinger, D., Mueller-Wieland, D., Murphy, E., Ounap, 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: Rubio-Gozalbo , M E , Haskovic , M , Bosch , A M , Burnyte , B , Coelho , A I , Cassiman , D , Couce , M L , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , M T , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , Y E , Langendonk , J G ....

مصطلحات موضوعية: Registry, Natural history, Galactosemia, GALT deficiency, Galactosemia network, ADULT PATIENTS, VITAMIN-D, COMPLICATIONS, RESTRICTION, PREVALENCE, METABOLISM, CHILDREN, OUTCOMES, DENSITY, HEALTH

الإتاحة: https://doi.org/10.1186/s13023-019-1047-zTest
https://cris.maastrichtuniversity.nl/en/publications/3471cd51-a699-48d3-a5d8-86b98757e12bTest

المؤلفون: Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, 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, Matthias, Treacy, E P, Berry, G T

المصدر: Rubio-Gozalbo, M E; Haskovic, M; Bosch, A M; Burnyte, B; 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; . (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), p. 86. BioMed Central 10.1186/s13023-019-1047-z

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/136908Test/

الإتاحة: https://doi.org/10.1186/s13023-019-1047-zTest
https://boris.unibe.ch/136908/1/Unbenannt.pdfTest
https://boris.unibe.ch/136908Test/

المؤلفون: Ditters I. A. M., Huidekoper H. H., Kruijshaar M. E., Rizopoulos D., Hahn A., Mongini T. E., Labarthe F., Tardieu M., Chabrol B., Brassier A., Parini R., Parenti G., van der Beek N. A. M. E., van der Ploeg A. T., van den Hout J. M. P., Mengel E., Hennermann J., Smitka M., Muschol N., Marquardt T., Marquardt M., Thiels C., Spada M., Pagliardini V., Menni F., della Casa R., Deodato F., Gasperini S., Burlina A., Donati A., Pichard S., Feillet F., Huet F., Mention K., Eyer D., Kuster A., Espil Taris C., Lefranc J., Barth M., Bruel H., Chevret L., Pitelet G., Pitelet C., Rivier F., Dobbelaere D.

المساهمون: Ditters, I. A. M., Huidekoper, H. H., Kruijshaar, M. E., Rizopoulos, D., Hahn, A., Mongini, T. E., Labarthe, F., Tardieu, M., Chabrol, B., Brassier, A., Parini, R., Parenti, G., van der Beek, N. A. M. E., van der Ploeg, A. T., van den Hout, J. M. P., Mengel, E., Hennermann, J., Smitka, M., Muschol, N., Marquardt, T., Marquardt, M., Thiels, C., Spada, M., Pagliardini, V., Menni, F., della Casa, R., Deodato, F., Gasperini, S., Burlina, A., Donati, A., Pichard, S., Feillet, F., Huet, F., Mention, K., Eyer, D., Kuster, A., Espil Taris, C., Lefranc, J., Barth, M., Bruel, H., Chevret, L., Pitelet, G., Pitelet, C., Rivier, F., Dobbelaere, D.

مصطلحات موضوعية: Cardiomyopathy, Hypertrophic, Europe, Human, Infant, Walking, alpha-Glucosidase, Dose-Response Relationship, Drug, Enzyme Replacement Therapy, Glycogen Storage Disease Type II

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000823076100017; volume:6; issue:1; firstpage:28; lastpage:37; numberofpages:10; journal:THE LANCET CHILD & ADOLESCENT HEALTH; http://hdl.handle.net/11588/870279Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121122562

الإتاحة: https://doi.org/10.1016/S2352-4642Test(21)00308-4
http://hdl.handle.net/11588/870279Test