المؤلفون: Ferdinandusse, S, Denis, S, Mooyer, PAW, Dekker, C, Duran, M, Soorani Yancheshmeh - Lunsing, Roelineke, Boltshauser, E, Macaya, A, Gartner, J, Majoie, CBLM, Barth, PG, Wanders, RJA, Poll-The, BT

المصدر: Ferdinandusse , S , Denis , S , Mooyer , PAW , Dekker , C , Duran , M , Soorani Yancheshmeh - Lunsing , R , Boltshauser , E , Macaya , A , Gartner , J , Majoie , CBLM , Barth , PG , Wanders , RJA & Poll-The , BT 2006 , ' Clinical and biochemical spectrum of D-bifunctional protein deficiency ' , Annals of Neurology , vol. 59 , no. 1 , pp. 92-104 .

مصطلحات موضوعية: PEROXISOMAL BETA-OXIDATION, CHAIN FATTY-ACIDS, PSEUDO-ZELLWEGER SYNDROME, COA HYDRATASE DEFICIENCY, HUMAN SKIN FIBROBLASTS, PRISTANIC ACID, MULTIFUNCTIONAL PROTEIN-2, DOCOSAHEXAENOIC ACID, BIOGENESIS DISORDERS, GAS-CHROMATOGRAPHY

العلاقة: https://research.rug.nl/en/publications/baa8722d-7176-4ed7-b7d8-ae6e62c86376Test

الإتاحة: https://hdl.handle.net/11370/baa8722d-7176-4ed7-b7d8-ae6e62c86376Test
https://research.rug.nl/en/publications/baa8722d-7176-4ed7-b7d8-ae6e62c86376Test

المؤلفون: Soorani-Lunsing, RJ, van Spronsen, FJ, Stolte-Dijkstra, No Value, Wanders, RJ, Ferdinandusse, S, Waterham, HR, Poll-The, BT, Rake, JP

المصدر: Soorani-Lunsing , RJ , van Spronsen , FJ , Stolte-Dijkstra , N V , Wanders , RJ , Ferdinandusse , S , Waterham , HR , Poll-The , BT & Rake , JP 2005 , ' Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency : A diagnostic pitfall ' , Journal of Inherited Metabolic Disease , vol. 28 , no. 6 , pp. 1172-1174 . https://doi.org/10.1007/s10545-005-0149-zTest

مصطلحات موضوعية: FIBROBLASTS, DISORDER, EXPRESSION, LIVER

العلاقة: https://research.rug.nl/en/publications/1eaf0e40-93f3-412f-8de2-33c098d9077cTest

الإتاحة: https://doi.org/10.1007/s10545-005-0149-zTest
https://hdl.handle.net/11370/1eaf0e40-93f3-412f-8de2-33c098d9077cTest
https://research.rug.nl/en/publications/1eaf0e40-93f3-412f-8de2-33c098d9077cTest