المؤلفون: Van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., GiÅ1⁄4ewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., Van Rijn, M., Trefz, F., Walter, J. H., Van Spronsen, F. J.

المساهمون: Van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., GiÅ1⁄4ewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., Van Rijn, M., Trefz, F., Walter, J. H., Van Spronsen, F. J.

مصطلحات موضوعية: European, Guideline, Hyperphenylalaninemia, Management, PAH deficiency, Phenylalanine, Phenylalanine hydroxylase deficiency, Phenylketonuria, PKU, Recommendation, Sapropterin, Tetrahydrobiopterin, Treatment, Genetics (clinical), Pharmacology (medical)

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29025426; info:eu-repo/semantics/altIdentifier/wos/WOS:000412915900001; volume:12; issue:1; numberofpages:56; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1022838Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85031093545; http://www.ojrd.comTest/

الإتاحة: https://doi.org/10.1186/s13023-017-0685-2Test
http://hdl.handle.net/11573/1022838Test
http://www.ojrd.comTest/

المؤلفون: Heard J. -M., Vrinten C., Schlander M., Bellettato C. M., Van Lingen C., Scarpa M., Matthijs G., Nassogne M. -C., Debray F. -G., Roland D., Chamova T., Kozich V., Pavel J., Zenker M., Lampe C., Das A. M., Hennermann J., Kolker S., Weinhold N., Mohnike K., Gruenert S., Lund A. M., Morales-Conejo M., Del Toro-Riera M., Aldamiz-Echevarria L., Garcia-Silva M. -T., Schiff M., Gouya L., De Lonlay P., Belmatoug N., Germain D. P., Cano A., Dobbelaere D., Jones S., Dawson C., Deegan P., Santra S., Vijay S., Petkovic Ramadza D., 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 M. -E., Visser G., Tangeraas T., Aarsand A., Kiec-Wilk B., Mendes Gaspar A. -M. S., Quelhas D., Leao-Teles E., Azevedo O., Rodriges Silva E. -M. F., De Abreu Freire L. -M. D. M., Martins E., Lajic S., Darin N., Groselj U., Tansek M. -Z.

المساهمون: Heard, J. -M., Vrinten, C., Schlander, M., Bellettato, C. M., Van Lingen, C., Scarpa, M., Matthijs, G., Nassogne, M. -C., Debray, F. -G., Roland, D., Chamova, T., Kozich, V., Pavel, J., Zenker, M., Lampe, C., Das, A. M., Hennermann, J., Kolker, S., Weinhold, N., Mohnike, K., Gruenert, S., Lund, A. M., Morales-Conejo, M., Del Toro-Riera, M., Aldamiz-Echevarria, L., Garcia-Silva, M. -T., Schiff, M., Gouya, L., De Lonlay, P., Belmatoug, N., Germain, D. P., Cano, A., Dobbelaere, D., Jones, S., Dawson, C., Deegan, P., Santra, S., Vijay, S., Petkovic Ramadza, D., 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, M. -E., Visser, G., Tangeraas, T., Aarsand, A., Kiec-Wilk, B., Mendes Gaspar, A. -M. S., Quelhas, D., Leao-Teles, E., Azevedo, O., Rodriges Silva, E. -M. F., De Abreu Freire, L. -M. D. M., Martins, E., Lajic, S., Darin, N., Groselj, U., Tansek, M. -Z.

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Disease, Inborn errors of metabolism, Orphan medicinal product

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11577/3486188Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
https://hdl.handle.net/11577/3486188Test

المؤلفون: Van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., Van Rijn, M., Trefz, F., Walter, J. H., Van Spronsen, F. J.

المساهمون: Van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., Van Rijn, M., Trefz, F., Walter, J. H., Van Spronsen, F. J.

مصطلحات موضوعية: European, Guideline, Hyperphenylalaninemia, Management, PAH deficiency, Phenylalanine, Phenylalanine hydroxylase deficiency, Phenylketonuria, PKU, Recommendation, Sapropterin, Tetrahydrobiopterin, Treatment, Genetics (clinical), Pharmacology (medical), edu, envir

العلاقة: http://hdl.handle.net/11573/1022838Test

الإتاحة: http://hdl.handle.net/11573/1022838Test

المؤلفون: Koens, L., Kuiper, A., Coenen, M., Elting, J., de Vries, J., Engelen, M., Koelman, J., van Spronsen, F., Spikman, J., de Koning, T., Tijssen, M.

مصطلحات موضوعية: Niemann-Pick type C, Cortical myoclonus, EEG-EMG coherence, Ataxia, Cognitive deficits, edu

العلاقة: http://www.ojrd.com/content/11/1/121Test

الإتاحة: http://www.ojrd.com/content/11/1/121Test