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

العلاقة: 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_F3F865C56384Test; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F3F865C563848Test

الإتاحة: https://doi.org/10.1002/jimd.12566Test
https://serval.unil.ch/notice/serval:BIB_F3F865C56384Test
https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F3F865C563848Test

المؤلفون: MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F, van Spronsen, F J

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

وصف الملف: application/pdf

العلاقة: 1750-1172; PURE: 20224806

الإتاحة: http://hdl.handle.net/10362/105898Test

المؤلفون: Yepez V. A., Gusic M., Kopajtich R., Mertes C., Smith N. H., Alston C. L., Ban R., Beblo S., Berutti R., Blessing H., Ciara E., Distelmaier F., Freisinger P., Haberle J., Hayflick S. J., Hempel M., Itkis Y. S., Kishita Y., Klopstock T., Krylova T. D., Lamperti C., Lenz D., Makowski C., Mosegaard S., Muller M. F., Munoz-Pujol G., Nadel A., Ohtake A., Okazaki Y., Procopio E., Schwarzmayr T., Smet J., Staufner C., Stenton S. L., Strom T. M., Terrile C., Tort F., Van Coster R., Vanlander A., Wagner M., Xu M., Fang F., Ghezzi D., Mayr J. A., Piekutowska-Abramczuk D., Ribes A., Rotig A., Taylor R. W., Wortmann S. B., Murayama K., Meitinger T., Gagneur J., Prokisch H.

المساهمون: V.A. Yepez, M. Gusic, R. Kopajtich, C. Merte, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itki, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribe, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch

مصطلحات موضوعية: Genetic diagnostic, Mendelian disease, RNA-seq, Allele, Human, Sequence Analysis, RNA, Whole Exome Sequencing, Transcriptome, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; volume:14; issue:1; firstpage:1; lastpage:26; numberofpages:26; journal:GENOME MEDICINE; https://hdl.handle.net/2434/926220Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470335

الإتاحة: https://doi.org/10.1186/s13073-022-01019-9Test
https://hdl.handle.net/2434/926220Test

المؤلفون: MacDonald, A., Van Wegberg, A. M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., Van Spronsen, F. J.

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

مصطلحات موضوعية: Diet, Guidelines, Phenylketonuria, PKU, Recommendations, Treatment, Genetics(clinical), Pharmacology (medical)

وصف الملف: application/pdf

العلاقة: 1750-1172; PURE: 18994666

الإتاحة: http://hdl.handle.net/10362/100821Test

المؤلفون: Evers, R. A. F., van Wegberg, A. M. J., Ahring, K., Beblo, S., Belanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Gizewska, M., Huijbregts, S. C. J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. K., MacDonald, A., van Spronsen, F. J.

المصدر: Evers , R A F , van Wegberg , A M J , Ahring , K , Beblo , S , Belanger-Quintana , A , Bosch , A M , Burlina , A , Campistol , J , Coskun , T , Feillet , F , Gizewska , M , Huijbregts , S C J , Kearney , S , Langeveld , M , Leuzzi , V , Maillot , F , Muntau , A C , Rocha , J C , Romani , C , Trefz , F K , MacDonald , A & van Spronsen , F ....

مصطلحات موضوعية: Phenylketonuria, Tetrahydrobiopterin, Survey, International

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/5937b96c-cd55-4631-a185-563f533c7e37Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.01.013Test
https://hdl.handle.net/11370/5937b96c-cd55-4631-a185-563f533c7e37Test
https://research.rug.nl/en/publications/5937b96c-cd55-4631-a185-563f533c7e37Test
https://pure.rug.nl/ws/files/177951681/1_s2.0_S1096719221000330_main.pdfTest

المؤلفون: Evers, R A F, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Bosch, A M, Burlina, A, Campistol, J, Coskun, T, Feillet, F, Giżewska, M, Huijbregts, S C J, Kearney, S, Langeveld, M, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F K, MacDonald, A, van Spronsen, F J

وصف الملف: text

العلاقة: https://publications.aston.ac.uk/id/eprint/42356/1/1_s2.0_S1096719221000330_main.pdfTest; Evers, R A F, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Bosch, A M, Burlina, A, Campistol, J, Coskun, T, Feillet, F, Giżewska, M, Huijbregts, S C J, Kearney, S, Langeveld, M, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C , Trefz, F K, MacDonald, A and van Spronsen, F J (2021). Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. Molecular genetics and metabolism, 132 (4), pp. 215-219.

الإتاحة: https://publications.aston.ac.uk/id/eprint/42356Test/
https://publications.aston.ac.uk/id/eprint/42356/1/1_s2.0_S1096719221000330_main.pdfTest

المؤلفون: MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Belanger-Quintana, A., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Gizewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., van Spronsen, F. J.

المصدر: MacDonald , A , van Wegberg , A M J , Ahring , K , Beblo , S , Belanger-Quintana , A , Burlina , A , Campistol , J , Coskun , T , Feillet , F , Gizewska , M , Huijbregts , S C , Leuzzi , V , Maillot , F , Muntau , A C , Rocha , J C , Romani , C , Trefz , F & van Spronsen , F J 2020 , ' PKU dietary handbook to accompany PKU guidelines (vol 15, 171, 2020) ' , Orphanet journal of rare ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/666f9d5d-635d-4ce3-a80d-829641b14b0bTest

الإتاحة: https://doi.org/10.1186/s13023-020-01486-6Test
https://hdl.handle.net/11370/666f9d5d-635d-4ce3-a80d-829641b14b0bTest
https://research.rug.nl/en/publications/666f9d5d-635d-4ce3-a80d-829641b14b0bTest
https://pure.rug.nl/ws/files/157618294/s13023_020_01486_6.pdfTest

المؤلفون: MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., van Spronsen, F. J.

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-020-01486-6Test

المؤلفون: Preisner, F., Kurz, F., Grünert, S. C., Jende, J., Schwarz, D., Haas, D., Neugebauer, J., Beblo, S., Weigel, C., Kölker, S., Heiland, S., Bendszus, M., Mütze, U.

المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

مصطلحات موضوعية: MAGNETIC resonance neurography, TEENAGERS, PROTEIN deficiency, MITOCHONDRIAL proteins, PERIPHERAL neuropathy, AUDITORY neuropathy, GLUCOSE-6-phosphate dehydrogenase deficiency

المؤلفون: Ottenberger, A., Mütze, U., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Dahl, S. vom, Roloff, S., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T.

المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

مصطلحات موضوعية: NEWBORN screening, MITOCHONDRIAL proteins, SURVIVAL rate, CARDIOMYOPATHIES, MUSCLE diseases