المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB

المصدر: Annals of neurology. 82(6):1004-1015

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137244001Test

المؤلفون: Siest, G, Auffray, C, Taniguchi, N, Ingelman-Sundberg, M, Murray, H, Visvikis-Siest, S, Ansari, M, Marc, J, Jacobs, P, Meyer, U, Van Schaik, RH, Müller, MM, Wevers, RA, Simmaco, M, Kussmann, M, Manolopoulos, VG, Alizadeh, BZ, Beastall, G, Németh, G

المصدر: Pharmacogenomics. 16(14):1527-39

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:226401575Test

المؤلفون: Mohamed, M, Gardeitchik, T, Balasubramaniam, S, Guerrero-Castillo, S, Dalloyaux, D, van Kraaij, S, Venselaar, H, Hoischen, A, Urban, Z, Brandt, U, Al-Shawi, R, Simons, JP, Frison, M, Ngu, L-H, Callewaert, B, Spelbrink, H, Kallemeijn, WW, Aerts, JMFG, Waugh, MG, Morava, E, Wevers, RA

المصدر: Journal of Inherited Metabolic Disease (2020) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10098414/1/Al-Shawi_jimd.12255.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10098414Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10098414/1/Al-Shawi_jimd.12255.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10098414Test/

المؤلفون: Wortmann, SB, van Hasselt, PM, Baric, I, Burlina, A, Darin, N, Horster, F, Coker, M, Ucar, SK, Krumina, Z, Naess, K, Ngu, LH, Pronicka, E, Riordan, G, Santer, R, Wassmer, E, Zschocke, J, Schiff, M, de Meirleir, L, Alowain, MA, Smeitink, JAM, Morava, E, Kozicz, T, Wevers, RA, Wolf, NI, Willemsen, MA

المصدر: Neuropediatrics. 46(2):98-103

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:130990870Test

المؤلفون: Pol, A, Renkema, GH, Tangerman, A, Winkel, EG, Engelke, UF, de Brouwer, AM, Lloyd, KC, Araiza, RS, van den Heuvel, L, Omran, H, Olbrich, H, Oude Elberink, M, Gilissen, C, Rodenburg, R, Sass, JO, Schwab, KO, Schäfer, H, Venselaar, H, Sequeira, JS, Op den Camp, HM, Wevers, RA

مصطلحات موضوعية: Extra-Oral Halitosis, Dimethylsulfoxide, Methanethiol, Methanethiol Oxidase, Inborn Error of Metabolism, Hydrogen Sulfide, Volatile Organic Compounds, Gasotransmitter, Erythrocytes, HDE MTB

العلاقة: Nat Genet. 2018 Jan;50(1):120-129; http://hdl.handle.net/10400.17/3051Test

الإتاحة: https://doi.org/10.1038/s41588-017-0006-7Test
http://hdl.handle.net/10400.17/3051Test

المؤلفون: Wortmann, SB, Chen, MA, Colombo, R, Pontoglio, A, Alhaddad, B, Botto, LD, Yuzyuk, T, Coughlin, CR, Descartes, M, Grűnewald, S, Maranda, B, Mills, PB, Pitt, J, Potente, C, Rodenburg, R, Kluijtmans, LA, Sampath, S, Pai, EF, Wevers, RA, Tiller, GE, and additional individual contributors, .

المصدر: Journal of Inherited Metabolic Disease , 40 (3) pp. 423-431. (2017)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1543075/1/art%253A10.1007%252Fs10545-017-0015-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1543075Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1543075/1/art%253A10.1007%252Fs10545-017-0015-9.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1543075Test/

المؤلفون: Wortmann, SB, Zietkiewicz, S, Guerrero-Castillo, S, Feichtinger, RG, Wagner, M, Russell, J, Ellaway, C, Mroz, D, Wyszkowski, H, Weis, D, Hannibal, I, von Stuelpnagel, C, Cabrera-Orefice, A, Lichter-Konecki, U, Gaesser, J, Windreich, R, Myers, KC, Lorsbach, R, Dale, RC, Gersting, S, Prada, CE, Christodoulou, J, Wolf, NI, Venselaar, H, Mayr, JA, Wevers, RA

العلاقة: pii: S1098-3600(21)05097-8; Wortmann, S. B., Zietkiewicz, S., Guerrero-Castillo, S., Feichtinger, R. G., Wagner, M., Russell, J., Ellaway, C., Mroz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stuelpnagel, C., Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K. C., Lorsbach, R., Dale, R. C. ,. Wevers, R. A. (2021). Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. GENETICS IN MEDICINE, 23 (9), pp.1705-1714. https://doi.org/10.1038/s41436-021-01194-xTest.; http://hdl.handle.net/11343/309690Test

الإتاحة: https://doi.org/10.1038/s41436-021-01194-xTest
http://hdl.handle.net/11343/309690Test

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: Tuschl, K, Clayton, PT, Gospe, SM, Shamshad, G, Ibrahim, S, Singhi, P, Ribeiro, RT, Zaki, MS, del Rosario, M Luz, Dyack, S, Price, V, Wevers, RA, Mills, PB

المصدر: The Lancet ; volume 381, page S110 ; ISSN 0140-6736

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/s0140-6736Test(13)60550-4
https://api.elsevier.com/content/article/PII:S0140673613605504?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0140673613605504?httpAccept=text/plainTest

المؤلفون: Guillard, M, Morava, E, de Ruijter, Jorg, Roscioli, T, Penzien, J, van, den Heuvel L, Willemsen, MA, de, Brouwer A, Bodamer, OA, Wevers, RA, Lefeber, DJ

المصدر: Guillard , M , Morava , E , de Ruijter , J , Roscioli , T , Penzien , J , van , D H L , Willemsen , MA , de , B A , Bodamer , OA , Wevers , RA & Lefeber , DJ 2011 , ' B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement ' , The Journal of Pediatrics , vol. 159 , no. 6 , pp. 1041-1043.e2 . https://doi.org/10.1016/j.jpeds.2011.08.007Test

العلاقة: https://cris.vtt.fi/en/publications/a1169b96-5187-406f-afaf-3eaa3a0f69ceTest

الإتاحة: https://doi.org/10.1016/j.jpeds.2011.08.007Test
https://cris.vtt.fi/en/publications/a1169b96-5187-406f-afaf-3eaa3a0f69ceTest
http://europepmc.org/abstract/med/21920538Test