المؤلفون: Belanger-Quintana, A., Demirkol, M., Feillet, F., Giovannini, M., MacDonald, A., Trefz, F. K., van Spronsen, F. J., Blau, N.

المساهمون: University Children''s Hospital Zurich ,, 189173

مصطلحات موضوعية: Yaşam Bilimleri, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Temel Bilimler, Tıbbi Ekoloji ve Hidroklimatoloji

العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Blau N., Belanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F. K. , van Spronsen F. J. , "Management of phenylketonuria (PKU) in Europe: A review from 8 countries", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.31, ss.83, 2008; vv_1032021; av_8c245cc2-07a1-4ba4-ac61-175b01c59026; http://hdl.handle.net/20.500.12627/94820Test; 31; 83

الإتاحة: https://doi.org/20.500.12627/94820Test
https://hdl.handle.net/20.500.12627/94820Test

المؤلفون: Demirkol, M., Trefz, F., Van Spronsen, F., MacDonald, A., Feillet, F., Muntau, A., Belanger-Quintana, A., Burlina, A., Giovannini, M., Gasteyger, C.

المساهمون: İstanbul Üniversitesi ,, 206091

مصطلحات موضوعية: ENDOKRİNOLOJİ VE METABOLİZMA, TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, GENETİK VE HAYAT, Klinik Tıp (MED), Klinik Tıp, Yaşam Bilimleri (LIFE)

العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Trefz F., Van Spronsen F., MacDonald A., Feillet F., Muntau A., Belanger-Quintana A., Burlina A., Demirkol M., Giovannini M., Gasteyger C., "MANAGEMENT OF ADULT PATIENTS WITH PHENYLKETONURIA: RESULTS FROM AN INTERNATIONAL SURVEY", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.35, 2012; vv_1032021; av_58083da7-1d39-4274-a7bc-95e1572ed5c5; http://hdl.handle.net/20.500.12627/62034Test; 35

الإتاحة: https://doi.org/20.500.12627/62034Test
https://hdl.handle.net/20.500.12627/62034Test

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

العلاقة: 5e8a7e65-0567-46fe-bfca-cfb30c981978; https://avesis.hacettepe.edu.tr/publication/details/5e8a7e65-0567-46fe-bfca-cfb30c981978/oaiTest

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.01.013Test
https://avesis.hacettepe.edu.tr/publication/details/5e8a7e65-0567-46fe-bfca-cfb30c981978/oaiTest

المؤلفون: Tegtmeyer, LC, Rust, S, van Scherpenzeel, M, Ng, BG, Losfeld, ME, Timal, S, Raymond, K, He, P, Ichikawa, M, Veltman, J, Huijben, K, Shin, YS, Sharma, V, Adamowicz, M, Lammens, M, Reunert, J, Witten, A, Schrapers, E, Matthijs, G, Jaeken, J, Rymen, D, Stojkovic, T, Laforet, P, Petit, F, Aumaitre, O, Czarnowska, E, Piraud, M, Podskarbi, T, Stanley, CA, Matalon, R, Burda, P, Seyyedi, S, Debus, V, Socha, P, Sykut-Cegielska, J, van Spronsen, F, de Meirleir, L, Vajro, P, DeClue, T, Ficicioglu, C, Wada, Y, Wevers, RA, Vanderschaeghe, Dieter, Callewaert, Nico, Fingerhut, R, van Schaftingen, E, Freeze, HH, Morava, E, Lefeber, DJ, Marquardt, T

المصدر: NEW ENGLAND JOURNAL OF MEDICINE ; ISSN: 0028-4793

مصطلحات موضوعية: Medicine and Health Sciences, MUSCLE GLYCOGENOSIS, DILATED CARDIOMYOPATHY, NUCLEOTIDE SUGARS, GLYCOSYLATION, IDENTIFICATION, CHILDREN, THERAPY, GLUCOSE, CONGENITAL DISORDERS, GLYCOGEN-STORAGE-DISEASE

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/4349577Test; http://hdl.handle.net/1854/LU-4349577Test; http://dx.doi.org/10.1056/NEJMoa1206605Test; https://biblio.ugent.be/publication/4349577/file/4349755Test

الإتاحة: https://doi.org/10.1056/NEJMoa1206605Test
https://biblio.ugent.be/publication/4349577Test
http://hdl.handle.net/1854/LU-4349577Test
https://biblio.ugent.be/publication/4349577/file/4349755Test

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

العلاقة: 601d3fcf-a77f-4174-bf5f-409a301d376d; https://avesis.hacettepe.edu.tr/publication/details/601d3fcf-a77f-4174-bf5f-409a301d376d/oaiTest

الإتاحة: https://doi.org/10.1186/s13023-020-01391-yTest
https://avesis.hacettepe.edu.tr/publication/details/601d3fcf-a77f-4174-bf5f-409a301d376d/oaiTest

المؤلفون: van Wegberg, A M J, Trefz, F, Gizewska, M, Ahmed, Sibtain, Chabraoui, L, Zaki, M S, Maillot, F, van Spronsen, F J, Study Group on missed PKU and missed to follow-up

المصدر: Department of Pathology and Laboratory Medicine

مصطلحات موضوعية: Immigrant, Late diagnosis, NBS, Phenylketonuria, Refugee, Pathological Conditions, Signs and Symptoms, Pathology, Pediatrics

العلاقة: https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1349Test; https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

الإتاحة: https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1349Test
https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

المؤلفون: Pierik, L. J. W. M., van Spronsen, F. J., Bijleveld, C. M. A., van Dael, C. M. L.

المصدر: Journal of Inherited Metabolic Disease ; volume 29, issue 4, page 597-597 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1007/s10545-006-9994-7Test

المؤلفون: Bekhof, J, van Rijn, M, Sauer, P J J, Ten Vergert, E M, Reijngoud, D-J, van Spronsen, F J

مصطلحات موضوعية: Community child health, public health and epidemiology

وصف الملف: text/html

العلاقة: http://adc.bmj.com/cgi/content/short/90/2/163Test; http://dx.doi.org/10.1136/adc.2003.040451Test

الإتاحة: https://doi.org/10.1136/adc.2003.040451Test
http://adc.bmj.com/cgi/content/short/90/2/163Test

المؤلفون: de Rooy, R. L.P., Halbertsma, F. J., Struijs, E. A., van Spronsen, F. J., Lunsing, R. J., Schippers, H. M., van Hasselt, P. M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J. F., Valence, S., Mills, P. B., Bok, L. A.

المساهمون: Cluster C, Metabole ziekten patientenzorg, Child Health

مصطلحات موضوعية: Late onset, Pyridoxine dependent epilepsy, Pediatrics, Perinatology, and Child Health, Clinical Neurology

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/365475Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/365475Test

المؤلفون: Verkerk, P H, van Spronsen, F J, Smit, G P, Sengers, R C

المصدر: Archives of Disease in Childhood ; volume 71, issue 2, page 114-118 ; ISSN 0003-9888 1468-2044

الإتاحة: https://doi.org/10.1136/adc.71.2.114Test